Alternating Hemiplegia of Childhood Foundation

AHC Bibliography

The AHC Foundation is pleased to provide the AHC Community with a list of research articles published over the years on AHC-related topics. While this bibliography is in no way complete, it is a comprehensive record of academic and scientific publications relevant to our community.
It is sorted into the following categories:

Most Recent Articles, Adeno-Associated Virus (AAV), ATP1A2-Related, ATP1A3-Related, Behavior, Dystonia, Epilepsy, Genetics, Medication, Migraine, Treatment, and General.

To obtain the full text of these articles you may:
Check the internet to see if a copy of the article is available for free (i.e. Google Scholar http://scholar.google.com/ )
Go to the publisher’s web site. Some publishers provide free access to an article after you register as a guest; while others require payment.
Some local public libraries have copies of medical journals or can get a copy of an article for you. Ask your local librarian about inter-library loan options and if fees are involved.

You may also want to check Pub Med for articles on a specific AHC related topic http://www.ncbi.nlm.nih.gov/pubmed

Google Alerts: If you’d like to be notified when a new article, news item or announcement related to AHC comes out, then consider signing up for Google Alerts. Google Alerts is a service that generates search engine results, based on criteria provided by you, and delivers the results to your e-mail account or RSS feed. To subscribe click here https://www.google.com/alerts

This Bibliography can be downloaded in PDF format. Click Here.

If anyone would like to suggest the inclusion of a new citation or has any comments regarding the bibliography, please forward them to Vicky Platt at Vicky@ahckids.org.

MOST RECENT ARTICLES

Lardinois KL, Guge N. “Physical Therapy for a Patient With Alternating Hemiplegia of Childhood: A Case Report.” Pediatric Physical Therapy. Jul 2019; 31(3): E8-E14. Abstract:
https://insights.ovid.com/pubmed?pmid=31220019

Domenger C, Grimm D. “Next-generation AAV Vectors – Don’t Judge a Virus (only) by its Cover.” Hum Mol Genet. 2019 Jul 1. Ahead of print. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31261383

Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y. “ATP1A3 Mosaicism in Families with Alternating Hemiplegia of Childhood.” Clin Genet. 2019 Jul; 96(1): 43-52. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30891744

Pattali R, Mou Y, Li XJ. “AAV9 Vector: A Novel Modality in Gene Therapy for Spinal Muscular Atrophy.” Gene Ther. 2019 Jun 26. Ahead of print. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31238336

Crudele JM, Chamberlain JS. “AAV-based Gene Therapies for the Muscular Dystrophies.” Hum Mol Genet. 2019 Jun 25. Ahead of print. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31238336

Nakashima T, Yasuda K, Kobayashi M, Wada H, Ishii A, Hirose S. “Heart Rate Variability in a Patient with Alternating Hemiplegia.” Intractable Rare Diseases Research. 2019 May; 8(2): 134-137. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557234/

Fernandes C, Mikati MA. “The Expanding Spectrum of ATP1A3 Related Disease.” Eur J Paediatr Neurol. 2019 May; 23(3): 345-346. No abstract available.
Panagiotakaki E. “Alternating Hemiplegia of Childhood: The Gap Between Paroxysmal Manifestations and Non-Paroxysmal Characteristics.” Developmental Medicine & Child Neurology. 2019 May; 61(5): 506. Fulltext: https://onlinelibrary.wiley.com/doi/full/10.1111/dmcn.14137

Jasien J, Bonner M, D’alli R, Prange L, Mclean M, Sachdev M, Uchitel J, Ricano J, Smith B, Mikati M. “Cognitive, Adaptice, and Behavioral Profiles and Management of Alternating Hemiplegia of Childhood.” Developmental Medicine & Child Neurology. 2019 May; 61(5): 547-554. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14077

Tan AH, Ong TL, Ramli N, Tan LK, Lim JL, Azhan MA, Ahmad-Annuar A, Ibrahim KA, Abdul-Aziz Z, Ozelius LJ, Brashear A, Lim SY. “Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities.” Journal of Movement Disorders. 2019 May; 12(2): 132-134. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547042/

Dundar NO, Cavusoglu D, Kaplan YC, Hasturk MO. “An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole.” Clin Neuropharmacol. 2019 May/Jun; 42(3): 88-90. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30893129

Sabouraud P, Riquet A, Spitz MA, Deiva K, Nevsimalova S, Mignot C, Lesca G, Bednarek N, Doummar D, Pietrement C, Laugel V. “Relapsing Encephalopathy with Cerebellar Ataxia are Caused by Variants Involving p.Arg756 in ATP1A3.” Eur J Paediatr Neurol. 2019 May; 23(3): 448-455. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30862413

Bird TD. “Hereditary Ataxia Overview.” GeneReviews. 2019 Apr 18. Fulltext: https://www.ncbi.nlm.nih.gov/books/NBK1138/

Balint B, Stephen CD, Udani V, Sankhla CS, Barad NH, Lang AE, Bhatia KP. “Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related Disease.” Mov Disord Clin Pract. 2019 Apr 4; 6(4):312-315. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31061839

Sen K, Hicks MA, Huq AHM, Agarwal R. “Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.” Neuropediatrics. 2019 Apr; 50(2): 122-125. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30650451

Ishihara N, Inagaki H, Miyake M, Kawamura Y, Yoshikawa t, Kurahashi H. “A Case of Early Onset Life-threatening Epilepsy Associated with a Novel ATP1A3 Gene Variant.” Brain & Development. 2019 Mar; 41(3): 285-291. Abstract: https://www.brainanddevelopment.com/article/S0387-7604(18)30256-0/fulltext

Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ. “Genotype-structure-Phenotype Relationships Diverge in Paralogs ATP1A1, ATP1A2, and ATP1A3.” Neurol Genet. 2019 Feb 4; 5(1): e303. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384024/

Van Hillegondsberg LS, Michaelis IA. “Alternating Hemiplegia of Childhood: First South African Case Report and Verapamil as a Possible Treatment Option.” S Afr Med J. 2019 Feb; 109(3): 152-153. Fulltext: http://www.samj.org.za/index.php/samj/article/view/12552/8763

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. “Biallelic Loss of Function Variants in ATP1A2 Cause Hydrops Fetalis, Microcephaly, Arthrogryposis and Extensive Cortical Malformations.” Eur J Med Genet. 2019 Jan. Abstract: https://www.sciencedirect.com/science/article/pii/S1769721218308024?via%3Dihub

Kansagra S, Ghusayni R, Kherallah B, Gunduz T, McLean M, Prange L, Kravitz RM, Mikati MA. “Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.” J Clin Sleep Med. 2019 Jan 15; 15(1): 65-70. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30621840

Galaz-Montoya CI, Alcaraz-Estrada S, García-Montaño LA, Zenteno JC, Piña-Aguilar RE. “A Recurrent de novo Mutation in ATP1A3 Gene in a Mexican Patient with Alternating Hemiplegia of Childhood Detected by Massively Parallel Sequencing.” Bol Med Hosp Infant Mex. 2019; 76(1): 49-53. In Spanish. Fulltext: http://www.bmhim.com/frame_esp.php?id=70

ADENO-ASSOCIATED VIRUS (AAV)

Assaf BT, Whiteley LO. “Considerations for Preclinical Safety Assessment of Adeno-Associated Virus Gene Therarpy Products.” Toxicologic Pathology. 2017 Oct 7; 46(8): 1020-1027. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30295175

Hakim CH, Wasala NB, Nelson CE, Wasala LP, Yue Y, Lounderman JA, Lessa TB, Dai A, Zhang K, Duan D. “AAV CRISPR Editing Resuces Cardiac and Muscle Function for 18 Months in Dystrophic Mice.” JCL Insight. 2018 Dec 6; 3(23). Fulltext: https://insight.jci.org/articles/view/124297

Naso M, Tomkowicz B, Perry W, Shrohl W. “Adeno-Associated Virus (AAV) as a Vector for Gene Therapy.” BioDrugs. 2017; 31: 317-334.
Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548848/

ATP1A2-RELATED

Al-Bulushi B, Al-Hashem A, Tabarki B. “A Wide Clinical Phenotype Spectrum in Patients with ATP1A2 Mutations.” Journal of Childhood Neurology (October 2013).
Bassi MT, Bresolin N, Tonelli A. “A Novel Mutation in the ATP1A2 Gene Causes Alternating Hemiplegia of Childhood.” Journal of Medical Genetics 41 (2004,): 621-628.

Boileau S, Vuillaume I, Sablonniere B, Marignier S, Des Portes V, Vallee L, Auvin S. “Absence of T378N Mutation of ATP1A2 Gene in Five Patients with Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology 50, no.11 (November 2008) 879-880.

Hiekkala ME, Vuola P, Artto V, Häppölä P, Häppölä E, Vepsäläinen S, Cuenca-León E, Lal D, Gormley P, Hämäläinen E, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Harno H, Havanka H, Keski-Säntti P, Färkkilä M, Palotie A, Wessman M, Kaunisto MA, Kallela M. “The Contribution of CACNA1A, ATP1A2 and SCN1A Mutations in Hemiplegic Migraine: A Clinical and Genetic Study in Finnish Migraine Families.” Cephalalgia. 2018 Oct; 38 (12); 1849-1863. Abstract: http://journals.sagepub.com/doi/abs/10.1177/0333102418761041?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed

Kinoshita PF, Leite JA, Orellana AM, Vasconcelos AR, Quintas LE, Kawamoto EM, Scavone C. “The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.” Frontiers in Physiology (June 2, 2016).

Kors E, VanMolkot K, Haan J, Kheradmand K, Stroink H, Laan L, Gill D, Pascual J, van den Maagdenberg A, Frants R. “Alternating Hemiplegia of Childhood: No Mutations in the Second Familial Hemiplegic Migraine Gene ATP1A2.” Neuropediatrics 35, no. 5 (October 2004): 293-296.

Lebas A, Guyant-Marechal L, Hannequin D, Riant F. “Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation.” Cephalalgia 28 (2008): 774-777.

Sampedro Castaneda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marqquest Caldas V, Conti Reed U, da Silva AMS, O’Callaghan B, Phadke R, Bugiardini E, Sud R, Matthews E. “A Novel ATP1A2 Mutation in a Patient with Hypokalaemic Periodic Paralysis and CNS Symptoms.” Brain. 2018 Dec; 141 (12): 3308-3318. Full Text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219/pdf/awy283.pdf

Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. “Alternating Hemiplegia of Childhood or Familial Hemiplegic Migraine? A Novel ATP1A2 Mutation.” Annals of Neurology 55, no. 6 (June 2004): 884-887.

Ueda K, Serajee F, Huq AM. “Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation.” Pediatrics. 2018 Apr; 141 (Suppl 5): S390-S394. Fulltext: http://pediatrics.aappublications.org/content/pediatrics/141/Supplement_5/S390.full.pdf

Unekawa M, Ikeda K, Tomita Y, Kawakami K, Suzuki N. “Enhanced Susceptibility to Cortical Spreading Depression in Two Types of Na+,K+-ATPase α2 Subunit-deficient Mice as a Model of Familial Hemiplegic Migraine 2.” Cephalalgia. 2018 Aug; 38 (9): 1515-1524. Abstract: http://journals.sagepub.com/doi/abs/10.1177/0333102417738249?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M. “An Infant with Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.” Pediatric Neurology 75 (October 2017): 87-90.

ATP1A3-RELATED

Azarias, et al. “A Specific and Essential Role for NA.K-ATPase a 3 in Neurons Co-expressing a 1 a 3.” J Biol Che. 288, no. 4 (January 25, 2013): 2734-43.
Bizec CL, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S. “No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLCA21 and in Patients with AHC Negative for ATP1A3.” JIMD Rep. 12 (2014):115-120.

Boelman C, Lagman-Bartolome A, MacGregor D, McCabe J, Logan W, Minassian B. “Identical ATP1A3 Mutation Causes Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia Parkinsonism Phenotypes.” Pediatric Neurology (December 2014): 850-853.

Brashear A, Ozelius L, Sweadner K. “ATP1A3 Mutations: What is the Phenotype?” Neurology (February 11, 2014).
Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N. “ATP1A3-related Disorders: An Update.” Eur J Paediatr Neurol. 2018 Mar; 22(2): 257-263. Abstract: https://www.sciencedirect.com/science/article/pii/S1090379817318949?via%3Dihub

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA. “Missense Variants in ATP1A3 and FXYD GeneFamily are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12. Abstract:
https://www.nature.com/articles/s41380-018-0103-8

Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F. “Relapsing Encephalopathy with Cerebellar Ataxia Related to an ATP1A3 Mutation.” Development Medicine and Child Neurology (September 23, 2015).

De Koning, Tom J, Marina Tijssen. “Movement Disorders in 2014: Genetic Advances Spark a Revolution in Dystonia Phenotyping.” Nature Reviews Neurology (January 2015).
Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K. “Functional Studies and Proteomics in Platelets and Fibroblasts Reveal a Lysosomal Defect with Increased Cathepsin-dependent Apoptosis in ATP1A3 Defective Alternating Hemiplegia of Childhood.” Journal of Proteomics (May 13, 2013).

Dobretsov M, Hayar A, Kockara N, Kozhemyakin M, Light K, Patyal P, Pierce D, Wight P. “A Transgenic Mouse Model to Selectively Identify α3 Na,K-ATPase Expressing Cells in the Nervous System.” Neuroscience. 2018 Jul 19. Abstract: https://www.sciencedirect.com/science/article/abs/pii/S0306452218304937

Doganli C, et al. “A3Na+/K+-ATPase Deficiency Causes Brain Ventricle Dilation and Abrupt Embryonic Motility in Zebrafish.” J Biol Chem. 288, no. 13 (March 29, 2013): 8862-74.

Giacanelli M, Petrucci A, Lispi L, Luna R, Neri G, Gurrieri F, Angelini C. “ATP1A3 Mutant Patient with Alternating Hemiplegia of Childhood and Brain Spectroscopic Abnormalities.” Journal of the Neurological Science. 2017 Aug 15; 379: 36-38.

Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K. “Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.” Brain Development. 2018 Aug; 40(7): 576-581. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418300895?via%3Dihub

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB. “CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.” Journal of Child Neurology (April 20, 2015).

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Johannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group. “Distinct Neurological Disorders with ATP1A3 Mutations.” Lancet Neurol. 13 no. 5 (May 2014): 503-14.

Heinzen E, Swoboda K, Hitomi Y, et al. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Nature Genetics 44, no.9 (September 2012): 1030-1034.

Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehard E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA. “Novel E815K Knock-in Mouse Model of Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 Nov; 119: 100-112. Abstract:
https://www.sciencedirect.com/science/article/pii/S0969996118303504?via%3Dihub

Hoei-Hansen C, Dali C, Lyngbye T, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology 18 no. 1 (January 2014): 50-54.

Holm R, Einholm AP, Andersen JP, Vilsen B. “Rescue of Na+ affinity in Aspartate 928 Mutants of Na+,K+-ATPase by Secondary Mutation of Glutamate 314.” Journal of Biological Chemistry (April 10, 2015): 9801-9811.

Holm R, Khandelwal J, Einholm AP, Andersen JP, Artigas P, Vilsen B. “Arginine Substitution of a Cysteine in Transmembrane Helix M8 Converts Na+,K+-ATPase to an Electroneutral Pump Similar to H+,K+-ATPase.” Proc Natl Acad Sci USA 114, no. 2 (January 10, 2017): 316-321.

Holm R, Toustrup-Jensen MS, Einholm AP, Schack VR, Andersen JP, Vilsen B. “Neurological Disease Mutations of a3 Na+,K+-ATPase: Structural and Functional Perspectives and Resucue of Compromised Function.” Biochim Biophys Acta (November 2016): 1807-1828.

Holm TH, Isaksen TJ, Clerup S, Heuck A, Nissen P, Lykke-Hartmann K. “Cognitive Deficits Caused by a Disease-Mutation in the a3 Na(+)/K(+)-ATPase Isoform.” Scientific Reports (August 23, 2016).

Holm TH, Lykke-Hartmann K. “Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.” Frontiers in Physiology (June 14, 2016).

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, et al. “Mosaicism in ATP1A3-Related Disorders: Not Just a Theoretical Risk.” Neurogenetic (October 10, 2016).

Hunanyan AS, Helseth AR, Abdelnour E, Kherallah B, Sachdev M, Chung L, Masoud M, Richardson J, Li Q, Nadler JV, Moore SD, Mikati MA. “Mechanisms of Increased Hippocampal Excitability in the Mashl+/- mouse Model of Na+ /K+ -ATPase Dysfunction.” Epilepsia. 2018 Jul; 59(7): 1455-1468. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/epi.14441
Ikeda K, Onimaru H, Kawakami K. “Knockout of Sodium Pump α3 Subunit Gene (Atp1a3-/-) Results in Perinatal Seizure and Defective Respiratory Rhythm Generation.” Brain Research 1666 (July 1, 2017): 27-37.

Isaksen TJ, Kros L, Vedovato N, Holm T, Vitenzon A, Gadsby D, Khodakhah K, Lykke-Hartmann K. “Hypothermia-induced Dystonia and Abnormal Cerebellar Activity in a Mouse Model with a Single Disease-mutation in the Sodium Pump.” PLoS Genetics (May 4, 2017).

Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, Ishii A, Hirose S, Shiraishi H. “Long-term Follow up of an Adult with Alternating Hemiplegia of Childhood and a p.Gly755Ser Mutation in the ATP1A3 Gene.” Brain Dev. 2018 Mar; 40(3): 226-228. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760417302954?via%3Dihub

Jaffer F, Fawcett K, Sims D, Heger A, Houlden H, Hanna M, Kingston H, Sisodiya S. “Familial Childhood-onset Progressive Cerebellar Syndrome Associated with ATP1A3 Mutation.” Neurology Genetics 3, no.3 (April 2017): e145-.

Junghans C, Vukojević V, Tavraz NN, Maksimov EG, Zuschratter W, Schmitt FJ, Friedrich T. “Disruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na+,K+-ATPase Membrane Diffusion.” Biophys J. 2017 Nov 21; 113(10): 2249-2260.

Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki, Y Torisu H, Saitsu H, Matsumoto N, Hara T. “De Novo p.Arg756Cys Mutation of ATP1A3 Causes an Atypical Form of Alternating Hemiplegia of Childhood with Prolonged Paralysis and Choreoathetosis.” BMC Neurology 16 (September 15, 2016): 174-.

Larsen BR, Stoica A, MacAulay N. “Managing Brain Extracellular K(+) during Neuronal Activity: The Physiological Role of the Na(+)/K(+)-ATPase Subunit Isoforms.” Frontiers in Physiology (April 22, 2016).

Marzin P, Mignot C, Dorison N, Dufour L, Ville D, Kaminska A, Panagiotakaki E, Dienpendaele AS, Penniello MJ, Nougues MC, Keren B, Depienne C, Nava C, Milh M, Villard L, Richelme C, Rivier C, Whalen S, Heron D, Lesca G, Doummar D. “Early-onset Encephalopathy with Paroxysmal Movement Disorders and Epileptic Seizures without Hemiplegic Attacks: About Three Children with Novel ATP1A3 Mutations.” Brain Development. 2018 Oct; 40(9): 768-774. Abstract: https://www.brainanddevelopment.com/article/S0387-7604(18)30214-6/fulltext

Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S. “A De Novo p.Arg756Cys Mutation in ATP1A3 Causes a Distinct Phenotype with Prolonged Weakness and Encephalopathy Triggered by Fever. Brain Dev. 2018 Mar; 40(3): 222-225. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760417302644?via%3Dihub

Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. “Childhood-onset ATP1A3-related Conditions: Report of Two New Cases of Phenotypic Spectrum.” Parkinsonism Related Disorders 30 (September 2016): 81-82.

Oblak AL, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, Epperson F, Cook JF, Stacy M, Murrell JR, Ozelous LJ, Brashear A, Ghetti B. “Rapid-Onset Dystonia-Parkinsonism Associated with the I758S Mutation of the ATP1A3 Gene: A Neuropathologic and Neuroanatomical Study of Four Siblings.” Acta Neuropatholgy (May 7, 2014).

Ozelius L. Clinical Spectrum of Disease Associated with ATP1A3 Mutations.” Lancet Neurology 11, no. 9 (September 2012): 741-743.

Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. “Novel Mutations in ATP1A3 Associated with Catastrophic Early Life Epilepsy, Episodic Prolonged Apnea, and Postnatal Microcephaly.” Epilepsia 56, no. 3 (March 2015).

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium.; French AHC Consortium.; International AHC Consortium. “Clinical Profile of Patients with ATP1A3 Mutations in Alternating Hemiplegia of Childhood: A Study of 155 Patients.” Orphanet Journal of Rare Diseases (September 26, 2015).

Pavlidis E, Uldall P, Gøbel Madsen C, Nikanorova M, Fabricius M, Høgenhaven H, Pisani F, Møller RS, Gardella E, Rubboli G. “Alternating Hemiplegia of Childhood and a Pathogenic Variant of ATP1A3: a Case Report and Pathophysiological Considerations.” Epileptic Disorders (June 19, 2017).

Prange L, Shashi V, Herman K, Schiffmann r, Abdelnour E, Jasien J, Kansagra S, McLean m, Walley N, Azar A, Heinzen E, Mikat M. “D-Demo, A Novel and Distinct Phenotype Caused by ATP1A3 Mutations.” Neurology 88, no.16, Supplement P4.157 (April 18, 2017).

Rosewich H. Baethmann M, Ohlenbush A, Gartner J, Brockmann K. “A Novel ATP1A3 Mutation with Unique Clinical Presentation.” J Neurol Sci. 341 (June 15, 2014).

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carriho L, Fiori S, Lourenco CM, Sawyer S, Steinfeld R, Gartner J, Brockmann K. “The Expanding Clinical and Genetic Spectrum of ATP1A3-Related Disorders.” Neurology 18, no. 82 (Mar 18, 2014): 945-955.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K. “Research Conference Summary from the 2014 International Task Force on ATP1A3-Related Disorders.” Neurology Genetics (April 3, 2017).

Rosewich H, Thiele H, Ohlenbusch A, et al. “Heterozygous De-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood: A Whole-Exome Sequencing Gene-Identification Study.” Lancet Neurology 11, no. 9 (September 2012): 764-73.

Sasaki M, Sakuragawa N, Osawa M. “Long-term Effect of Flunarizine on Patients with Alternating Hemiplegia of Childhood in Japan.” Brain & Development 23, no 5 (August 2001): 303-30.
Schirinzi T, Graziola F, Nicita F, Travaglini L, Stregapede F, Valeriani M, Curatolo P, Bertini E, Vigevano F, Capuano A. “Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.” Cerebellum; 2018 Aug; 17(4): 489-493. Abstract: https://link.springer.com/article/10.1007%2Fs12311-018-0920-y

Shrivastava A, Triller A, Melki R. “Cell Biology and Dynamics of Neuronal Na+/K+-ATPase in Health and Diseases.” Neuropharmacology. 2018 Dec 11. Abstract: https://www.sciencedirect.com/science/article/pii/S0028390818309079?via%3Dihub

Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George Al Jr. “Direct Evidence of Impaired Neuronal Na/K-ATPase Pump Function in Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 July; 115: 29-38. Abstract: https://www.sciencedirect.com/science/article/pii/S0969996118300779?via%3Dihub

Sival DA, Vansenne F, Van der Hout AH, Tijssen MAJ, de Koning TJ. “Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?” Pediatric Neurology. 2018 Apr; 81: 57-58. Fulltext: https://www.pedneur.com/article/S0887-8994(17)31132-3/pdf

Shrivastava A, Redeker V, Fritz N, Pieri L, Almeida LG, Spolidoro M, Liebmann T, Bousset L, Renner M, Léna C, Aperia A, Melki R, Triller A. “α-synuclein Assemblies Sequester Neuronal α3-Na+/K+-ATPase and Impair Na+ Gradient.” The EMBO Journal (August 31, 2015).

Simmons C, Swoboda K, Ess K, George A. “Impaired Cell Surface Expression of ATP1A3 Mutations Associated with Alternating Hemiplegia of Childhood.” Biophysical Journal 108, no. 2 (January 2015).

Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E. “ATP1A3 Spectrum Disorders: A Video-Documented History of 7 Genetically Confirmed Early Onset Cases.” Eur J Paediatr Neurol, 2018 Mar; 22(2): 264-271. Abstract: https://www.sciencedirect.com/science/article/pii/S1090379817316975?via%3Dihub

Sugimoto H, Ikeda K, Kawakami K. “Atp1a3-deficient Heterozygous Mice Show Lower Rank in the Hierarchy and Altered Social Behavior.” Genes, Brain and Behavior. 2018 Jun; 17 (5): e12435. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/gbb.12435

Termsarasab P, Yang AC, Frucht SJ. “Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.” Tremor and Other Hyperkinetic Movements (September 16, 2015).

Torres A, Brownstein C, Tembulkar S, Graber K, et al. “De Novo ATP1A3 and Compound Heterozygous NLRP3 Mutations in a Child with Autism Spectrum Disorder, Episodic Fatigue and Somnolence, and Muckle-Wells Syndrome.” MGM Reports 2018 Sep; 15: 23-29. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005789/pdf/main.pdf

Younes TB, Benrhouma H, Klaa H, Rouissi A, Chaabouni M, Kraoua I, Youssef-Turki IB. “Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.” Neuropediatrics. 2018 Oct; 49(5): 339-341. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1667024

Toustrup-Jensen MS, Einhold AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B. “Relationship Between Intracellular N1+ Concentration and Reduced Na+ Affinity in Na+,K+ATPase Mutants Causing Neurological Disease.” J Biol Chem. 289, no. 6 (February 7, 2014): 3186-3197.

Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Cadela R, Eiris J, Lopez-Laso E, Pineda M, Sans A, Velazquez R. “Alternating Hemiplegia of Childhood: ATP1A3 Gene Analysis in 16 Patients.” Med Clin (Barc) April 23, 2014. (in Spanish)

Ulate-Campos A, Fons C, Artuch R, Castejon E, Martorell L, Ozelius L, Pascual J, Campistol J. “Alternating Hemiplegia of Childhood with a De Novo Mutation in APT1A3 and Changes in SLC2A1 Responsive to Ketogenic Diet.” Pediatric Neurology (December 6, 2013).

Weigand KM, Messchaert M, Swarts HG, Russel FG, Koenderink JB. “Alternating Hemiplegia of Childhood Mutations Have a Differential Effect on Na(+).K(+)-ATPase Activity and Ouabain Binding.” Biochim Biophys Acta (July 2014).

Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y. “ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients.” PLos ONE 9, no. 5 (May 2014).

Yang X, Zhang Y, Yuan D, Xu X, Li S, Wei L, Wu Y, Xiong H, Liu X, Bao X, Jiang Y, Wu X. “ATP1A3 Gene Mutations in Patients with Alternating Hemiplegia of Childhood.” Zhongua Er Ke Za Zhi (November 2015). (Chinese)

Yano S, Silver K, Young R, DeBrosse S, Ebel R, Swoboda K, Acsadi G. “Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.” Pediatric Neurology 73 (August 2017): 101-105.

BEHAVIOR

Brashear A, Cook JF, Hill DF, Amonsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV. “Psychiatric Disorders in Rapid-Onset Dystonia Parkinsonism.” Neurology (September 11, 2012): 1168-1173.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA. “Missense Variants in ATP1A3 and FXYD Gene Family are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12. Abstract: https://www.nature.com/articles/s41380-018-0103-8

Holm TH, Isaksen TJ, Clerup S, Heuck A, Nissen P, Lykke-Hartmann K. “Cognitive Deficits Caused by a Disease-Mutation in the a3 Na(+)/K(+)-ATPase Isoform.” Scientific Reports (August 23, 2016).

Hunanyan Aresn, Fainberg N, Linabarger M, Arehart E, Leonard A, Adil S, Mikati M. “Knock-in Mouse Model of Alternating Hemiplegia of Childhood: Behavioral and Electrophysiologic Characterization.” Epilepsia. 2015 Jan; 56(1): 82-93.

Kirshenbaum GS, Burgess CR, Dery N, Fahnestock M, Peever JH, Roder JC. “Attenuation of Mania-Like Behavior in Na(+), K(+)-ATPase α3 Mutant Mice by Prospective Therapies for Bipolar Disorder: Melatonin and Exercise.” Neuroscience (February 2014): 195-204.

Kirshenbaum GS, Clapcote SJ, Duffy S, Burgess CR, Petersen J, Jarowek KJ, Yucel YH, Cortez MA, Snead OC 3rd, Vilsen B, Peever, JH, Ralph MR, Roder JC. “Mania-like Behavior Induced by Genetic Dysfunction of the Neuron-specific Na+,K+-ATPase α3 Sodium Pump.” Proc Natl Acad Sci U S A. 2011 Nov 1; 108(44): 18144-18149.

Kirshenbaum GS, Clapcote SJ, Petersen J, Vilsen B, Ralph MR, Roder JC. “Genetic Suppression of Agrin Reduces Mania-Like Behavior in Na+, K+-ATPase a3 Mutant Mice.” Genes Brain and Behavior (June 2012): 436-443.

Kirshenbaum GS, Dachtler J, Roder JC, Clapcote SJ. “Characterization of Cognitive Deficits in Mice with an Alternating Hemiplegia-linked Mutation.” Behavioral Neuroscience (2015): 822–831.

Kirshenbaum GS, Dachtler J, Roder JC, Clapcote SJ. “Transgenic Rescue of Phenotypic Deficits in a Mouse Model of Alternating Hemiplegia of Childhood.” Neurogenetics (2016): 57–63.

Kirshenbaum, GS, Dawson, N, Mullins, JG, Johnston, TH, Drinkhill, MJ, Edwards, IJ, Fox SH, Pratt, JA, Brotchie, JM, Roder, JC, Clapcote, SJ. “Alternating Hemiplegia of Childhood-Related Neural and Behavioural Phenotypes in Na+K+-ATPase a3 Missense Mutant Mice.” PLos ONE 2013; 8(3).

Kirshenbaum GS, Idris NF, Dachtler J, Roder JC, Clapcote SJ. “Deficits in Social Behavioral Tests in a Mouse Model of Alternating Hemiplegia of Childhood.” J Neurogenet. 2016 Mar 30; 8(3): 42-49.

Kirshenbaum GS, Saltzman K, Rose B, Petersen J, Vilsen B, Roder JC. “Decreased Neuronal Na+, K+ -ATPase Activity in Atp1a3 Heterozygous Mice Increases Susceptibility to Depression-like Endophenotypes by Chronic Variable Stress.” Genes Brain Behav. 2011 Jul; 10(5): 542550.

Lingrel JB, Williams MT, Vorhees CV, Moseley AE. “Na,K-ATPase and the Role of Alpha Isoforms in Behavior.” Journal of Bioenergetics and Biomembranes (December 2007): 385-389.

Moseley A, Williams M, Schaefer T, Bohanan C, Neumann J, Behbehani M, Vorhees C, Lingrel J. “Deficiency in Na,K-ATPase α Isoform Genes Alters Spatial Learning, Motor Activity, and Anxiety in Mice.” The Journal of Neuroscience. 2007 Jan 17; 27(3): 616-626.

Muriel V, Garcia-Molina A, Aparicio-Lopez C, Ensenat A, Roig-Rovira T. “Neuropsychological Deficits in Alternating Hemiplegia of Childhood: A Case Study.” Rev Neurol. (July 2015): 25-28. (In Spanish)

Neville B.G., Ninan M. “The Treatment and Management of Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology (2007): 777–780.

Rinalduzzi S, Valeriani M, Vigevano F. “Brainstem Dysfunction in Alternating Hemiplegia of Childhood: A Neurophysiological Study.” Cephalalgia 26, no. 5(May 2006): 511-519.

Shafer ME, Mayfield JW, McDonald F. “Alternating Hemiplegia of Childhood: A Study of Neuropsychological Functioning.” Applied Neuropsychology 12, no. 1 (2005): 49-56.

Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne, MC, Shi J, et. al. “A Novel de Novo Mutation in ATP1A3 and Childhood-onset Schizophrenia.” Cold Spring Harb Mol Case Studies 2, no. 5 (Setptember 2016): 1008-.

Sugimoto H, Ikeda K, Kawakami K. “Atp1a3-deficient Heterozygous Mice Show Lower Rank in the Hierarchy and Altered Social Behavior.” Genes Brain Behav. 2017 Oct 23.
Sweney M, Newcomb T, Swoboda K. “The Expanding Spectrum of Neurological Phenotypes in Children with ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond.” Pediatric Neurolog (January 2015): 56-64.

Sweney MT, Silver K, Gerard-Blanluet M, Pedespan JM, Renault F, Arzimanoglou A, Schlesinger-Massart M, Lewelt AJ, Reyna SP, Swoboda KJ. “Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome.” Pediatrics 123, no. 3 (March 2009): e534-541.

Tochigi M, Iwamoto K, Bundo M, Sasaki T, Kato N, Kato T. “Gene Expression Profiling of Major Depression and Suicide in the Prefrontal Cortex of Postmortem Brains.” Neuroscience Research (February 2008): 184-191.

DYSTONIA

Andermann F, Ohtahara S, Andermann E, Camfield P, Kobayashi K. “Infantile Hypotonia and Paroxysmal Dystonia: A Variant of Alternating Hemiplegia of Childhood.” Movement Disorders.9, no.2 (March 1994): 227-229.

De Koning, Tom J, Marina Tijssen. “Movement Disorders in 2014: Genetic Advances Spark a Revolution in Dystonia Phenotyping.” Nature Reviews Neurology (January 2015).

Van Egmond, Kuiper A, Eggink H, Sinke R, Brouwer O, Verschuuren-Bemelmans C, Divak D, Tijssen M, de Koning T. “Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm.” Journal of Neurology, Neurosurgery and Psychiatry (November 13, 2014).

EPILEPSY

Aicardi J. “Alternating Hemiplegia of Childhood.” in Epilepsy and Movement Disorders, ed. G Renzo et al. (Cambridge University Press, 2002), 379-392.

Badoe, EV. “Alternating Hemiplegia in a Child Misdiagnosed as Intractable Epilepsy Successfully Treated with Aripiprazole: A Case Study.” West Afr J Med. (March-April 2011): 140-144.

Balciuniene J, DeChene ET, Akgumus G, Romasko EJ, Cao K, Dubbs HA, Mulchandani S, Spinner NB, Conlin LK, Marsh ED, Goldberg E, Helbig I, Sarmady M, Abou Tayoun A. “Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.” JAMA Netw Open. 2019 Apr 5;2(4): e192129. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481455/

Bartolini E, Campostrini R, Kiferle L, Pradella S, Rosati E, Chinthapalli K, Palumbo P. “Epilepsy and Brain Channelopathies from Infancy to Adulthood.” Neurol Sci. 2019 Dec 14. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31838630

Dhakar MB, Bamford NS. “Pearls & Oysters: Alternating Hemiplegia of Childhood Mimics Focal Epilepsy and Paroxysmal Dyskinesia in Infancy.” Neurology. 2018 Jul 3; 91(1): 47-49. Fulltext: http://n.neurology.org/content/91/1/47.long

Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, et al. “ATP1A3-related Epilepsy: Report of Seven Cases and Literature-based Analysis of Treatment Response.” J Clin Neurosci. 2020 Jan 17. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31959558

Holze N, Baalen AV, Stephani U, Helbig I, Muhle H. “Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.” Neuropediatrics. 2018 Oct; 49(5): 342-346. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1653978

Incorpora G, Pavone P, Ruggieri M, Cocuzza M, Mazzone L, Parano E, Privitera M. “Neonatal Onset of Hot Water Reflex Seizures in Monozygotic Twins Subsequently Manifesting Episodes of Alternating Hemiplegia.” Epilepsy Research 78, no. 2-3 (February 2008): 225-231.

Incecik F, Herguner OM. “Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy.” Journal of Neurosciences in Rural Practice Suppl 1 (December 2016): S130-S131.

Ishihara N, Inagaki H, Miyake M, Kawamura Y, Yoshikawa t, Kurahashi H. “A Case of Early Onset Life-threatening Epilepsy Associated with a Novel ATP1A3 Gene Variant.” Brain & Development. 2019 Mar; 41(3): 285-291. Abstract: https://www.brainanddevelopment.com/article/S0387-7604(18)30256-0/fulltext

Marzin P, Mignot C, Dorison N, Dufour L, Ville D, Kaminska A, Panagiotakaki E, Dienpendaele AS, Penniello MJ, Nougues MC, Keren B, Depienne C, Nava C, Milh M, Villard L, Richelme C, Rivier C, Whalen S, Heron D, Lesca G, Doummar D. “Early-onset Encephalopathy with Paroxysmal Movement Disorders and Epileptic Seizures without Hemiplegic Attacks: About Three Children with Novel ATP1A3 Mutations.” Brain Development. 2018 Oct; 40(9): 768-774. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418302146?via%3Dihub

Olson H, Poduri A, Pearl P. “Genetic Forms of Epilepsies and other Paroxysmal Disorders.” Semin Neurol. (July 2014): 266-279.

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. “ATP1A3-related Epileptic Encephalopathy Responding to Ketogenic Diet.” Brain Dev. 2018 Jan 26. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418300068?via%3Dihub

Shirasaka Y, Ito M, Okuno T, Mikawa H, Yamori Y. “Epileptic Seizures Difficult to Differentiate from Alternating Hemiplegia in Infants: A Case Report.” Brain Development 12, no.5 (1990): 521-524.

Spina S, Antoniuk S, Bruk I, Crippa A. “Post-ictal EEG Findings in a Patient Diagnosed with Alternating Hemiplegia of Childhood (AHC).” Journal of the Neurological Sciences 333, Supplement 1 (October 2013): e630.

Sharawat IK, Saini L. “Recurrent Focal Seizures and Transient Hemiparesis: Think About Alternating Hemiplegia of Childhood.” Pediatric Neurology. 2018 Mar; 80: 97-98. Abstract: https://www.pedneur.com/article/S0887-8994(17)31152-9/abstract

Uchitel J, Helseth A, Prange L, McLean M, Ghusayni R, Sachdev M, Hunanyan A, Mikati MA. “The Epileptology of Alternating Hemiplegia of Childhood.” Neurology. 2019 Sep 24;93(13): e1248-e1259. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31484714

GENETICS

Al-Bulushi B, Al-Hashem A, Tabarki B. “A Wide Clinical Phenotype Spectrum in Patients with ATP1A2 Mutations.” J Child Neurol. (February 2014).

Alexoudi, A, Schneider, SA. “Alternating Hemiplegia of Childhood and Rapid-onset Dystonia Parkinsonism are Allelic Disorders Due to ATP1A3 Gene Mutations.” Movement Disorders (October 2012): 1494-.

Aminkeng, F. “Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Clinical Genetics 83, no.1 (January 2013): 32-33.

Azarias, et al. “A Specific and Essential Role for NA.K-ATPase a 3 in Neurons Co-expressing a 1 a 3.” J Biol Chem. 288, no. 4 (January 25, 2013): 2734-43.

Bassi MT, Bresolin N, Tonelli A. “A Novel Mutation in the ATP1A2 Gene Causes Alternating Hemiplegia of Childhood.” Journal of Medical Genetics 41 (2004,): 621-628.

Bird TD. “Hereditary Ataxia Overview.” GeneReviews. 2019 Apr 18. Fulltext: https://www.ncbi.nlm.nih.gov/books/NBK1138/

Boileau S, Vuillaume I, Sablonniere B, Marignier S, Des Portes V, Vallee L, Auvin S. “Absence of T378N Mutation of ATP1A2 Gene in Five Patients with Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology 50, no.11 (November 2008) 879-880.

Brashear A, Ozelius L, Sweadner K. “ATP1A3 Mutations.” Neurology (February 11, 2014).

Brockmann, K. “Episodic Movement Disorders: From Phenotype to Genotype and Back.” Curr Neurol Neurosci Rep. (October 13, 2013).

Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K. “Functional Studies and Proteomics in Platelets and Fibroblasts Reveal a Lysosomal Defect with Increased Cathepsin-dependent Apoptosis in ATP1A3 Defective Alternating Hemiplegia of Childhood.” Journal of Proteomics (May 13, 2013).

De Vries B, Haan J, Stam AH, Vanmolkot KR, Stoink H, Laan LA, Gill DS, Pascual J, Frants RR, van den Maagdenberg AM, Ferrari MD. “Alternating Hemiplegia of Childhood: No Mutations in the Glutamate Transporter EAAT1.” Neuropediatrics (October 2006): 302-304.

Doganli C, et al. “a3Na+/K+-ATPase Deficiency Causes Brain Ventricle Dilation and Abrupt Embryonic Motility in Zebrafish.” J Biol Chem. 288 no. 13 (March 29, 2013): 8862-74.

Duan BC, Wong LC, Lee WT. “Alternating Hemiplegia and Paroxysmal Torticollis Caused by SCN4A Mutation: A New Phenotype?” Neurology. 2019 Oct 8;93(15):673-674. No abstract.

Heinzen E, Swoboda K, Hitomi Y, et al. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Nature Genetics 44, no.9 (September 2012): 1030-1034.

Hoei-Hansen CE, Dali C, Lyngbye TJ, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology (September 25, 2013).

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, et al. “Mosaicism in ATP1A3-Related Disorders: Not Just a Theoretical Risk.” Neurogenetics (October 10, 2016).

Ikeda K, et al. “Enhanced Inhibitory Neurotransmission in the Cerebellar Cortex of the Atp1a3-deficient Heterozygous Mice.” J Physiol. (May 13, 2013).

Inui T, Saito Y, Sakuma H, et al. “Profiles of Blood Biomarkers in Alternating Hemiplegia of Childhood—Increased MMP-9 and Decreased Substance P Indicates its Pathophysiology.” Brain & Development 34, no. 3, (March 2012): 196-200.

Ishi A, Saito Y, Mitsui J, et al. “Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients.” PLos ONE 8, no. 2, (February 2013).

Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. “Mutation in the Glutamate Transporter EAAT1 Causes Episodic Ataxia, Hemiplegia, and Seizures.” Neurology.65, no.4 (August 23, 2005): 529-534.

Jian W, Ma L, Du B, Chi Z, Zeng Q, Shan P. “Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions.” Neuropediatrics 45, no. 3 (June 2014):162-168.

Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S. “Alternating Hemiplegia of Childhood: A Syndrome Inherited with an Autosomal Dominant Trait.” Developmental Medicine and Child Neurology 45. no.12 (December 2003): 833-836.

Kirshenbaum GS, Dawson N, Mullins JG, Johnston TH, Drinkhill MJ, Edwards IJ, Fox SH, Pratt JA, Brotchie JM, Roder JC, Clapcote SJ. “Alternating Hemiplegia of Childhood-Related Neural and Behavioural Phenotypes in Na+K+-ATPase a3 Missense Mutant Mice.” PLos ONE 8, no. 3 (2013).

Le Bizec C, Nicole S, Panagiotakaki E, Seta N, and Vuillaumier-Barrot S. “No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and Patients with AHC Negative for ATP1A3.” JIMD Reports (September 4, 2013).

Li M, Jazayeri D, Corry B, Melodi McSweeney K, Heinzen E, Goldstein D, Petrou S. “A Functional Correlate of Severity in Alternating Hemiplegia of Childhood.” Neurobiology of Disease (February 12, 2015).

Li SP, Zhang YH, Yang XL, Chen JY, Zeng Q, Zhang J, Wu XR. “Genotype-phenotype Correlation in Patients with Alternating Hemiplegia of Childhood.” Zhonghua Er Ke Za Zhi (Chinese). 2018 Nov 2; 56(11): 811-817. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30392204

Liu Y, Bao X, Wang D, et al. “Allelic Variations of Glut-1 Deficiency Syndrome: the Chinese Experience.” Pediatric Neurology47, no. 1 (July 2012): 30-34.

Ozelius, L. “Clinical Spectrum of Disease Associated with ATP1A3 Mutations.” Lancet Neurology 11, no. 9 (September 2012): 741-743.

Ragona F, Castellotti B, Salis B, Magri S and others. “Alternating Hemiplegia and Epilepsia Partialis Continua: a New Phenotype for a Novel Compound TBC1D24 Mutation.” Seizure (March 6, 2017).

Rosewich H. Baethmann M, Ohlenbush A, Gartner J, Brockmann K. “A Novel ATP1A3 Mutation with Unique Clinical Presentation.” J Neurol Sci. 341 (June 15, 2014).

Rosewich H, Thiele H, Ohlenbusch A, et al. “Heterozygous De-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood: A Whole-Exome Sequencing Gene-Identification Study.” Lancet Neurology 11, no.9 (September 2012): 764-73.

Rosewich H, Weise D, Ohlenbusch A, Gartner J, Brockmann K. “Phenotypic Overlap of Alternating Hemiplegia of Childhood and CAPOS Syndrome.” Neurology (August 26, 2014).

Rotstein M, Doran J, Yang, H, Ullner PM, Engelstad K, DeVivo DC. “Glut1 Deficiency and Alternating Hemiplegia of Childhood.” Neurology 73, no.23 (December 8, 2009): 2042-2044.

Sasaki M, Ishii A, Saito Y, Morisada N, et al. “Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood.” Neurology 82, no. 6 (February 11, 2014): 482-490.

Sen K, Hicks MA, Huq AHM, Agarwal R. “Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.” Neuropediatrics. 2019 Apr; 50(2): 122-125. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30650451

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. “Targeted Exome Analysis Identifies the Genetic Basis of Disease in over 50% of Patients with a Wide Range of Ataxia-related Phenotypes.” Genetics in Medicine. 2018 Jun 18. Abstract: https://www.nature.com/articles/s41436-018-0007-7

Sweney M, Newcomb T, Swoboda K. “The Expanding Spectrum of Neurological Phenotypes in Children with ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond.” Pediatric Neurology (January 2015): 56-64.

Talsma A, Chaves J, LaMonaca A, Wieczorek, Palladino M. “Genome-Wide Screen for Modifiers of Na+/K+ATPase Alleles Identifies Critical Genetic Loci.” Mol Brain (December 5, 2014).

Tanner GR, Lutas A, Martinez-Francois JR, Yellen G. “Single K ATP Channel Opening in Response to Action Potential Firing in Mouse Dentate Granule Neurons.” Journal of Neuroscience 31, no.23 (June 8, 2011).

Ulate-Campos A, Fons C, Arthuc R, Castejon E, Martorell L, Ozelius L, Pascual J, Campistol J. “Alternating Hemiplegia of Childhood with a De Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to Ketogenic Diet.” Pediatr Neurol (April 2014): 377-379.

Vila-Pueyo M, Pons R, Raspall-Chaure M, Marcė-Grau A, Carreńno O, Sintas C, Cormand B, Pineda-Marfá M, Macaya A. “Clinical and Genetic Analysis in Alternating Hemiplegia of Childhood: Ten New Patients from Southern Europe.” J Neurol Sci. 344, no.1–2 (2014): 37–42.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelso B, Andermann F, Andermann E, Ascadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse Sd, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, leventer RJ, Lewelt AJ, Massart MB, Merida MR 2nd, Ptacke LJ, Roach JC, Rust RS, Renault F, Stanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. “Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.” PLos ONE, (May 21, 2015).

Vuillaumier-Barrot, S., Panagiotakaki, E., Le Bizec, C., and others. “Absence of Mutation in the SLC2A1 Gene in a Cohort of Patients with Alternating Hemiplegia of Childhood.” Neuropediatrics 41, no.6 (December 2010): 267-269.

Weller CM, Leen WG, Neville BG, Duncan JS, Vries BD, Geilenkirchen MA, Haan J, Kamsteeg EJ, Ferrari MD, Maagdenberg AM, Willemsen MA, Scheffer H, Terwindt GM. “A Novel SLC2A1 Mutation Linking Hemiplegic Migraine with Alternating Hemiplegia of Childhood.” Cephalalgia (May 13, 2014).

Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VS, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C. “Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.” Journal of Pediatrics (February 2017): 306-308.

Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y. “ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients.” PLos ONE 9, no. 5 (May 2014).

MEDICATION

Aishworiya R, Low P, Tay S. “Alternating Hemiplegia of Childhood: Successful Treatment with Topiramate and Flunarizine, a Case Report.” Annals of Tropical Paediatrics 31, no. 2 (2011): 149-152.

Alexoudi A, Schneider SA. “Alternating Hemiplegia of Childhood and Rapid-onset Dystonia Parkinsonism are Allelic Disorders due to ATP1A3 Gene Mutations.” Movement Disorders (October 2012): 1494-.

Casaer P. “Flunarizine in Alternating Hemiplegia of Childhood: An International Study in 12 Children.” Neuropediatrics 18, no. 4 (November 1987): 91-95.

Chi L, Zhao X, Liu X. “Alternating Hemiplegia of Childhood in Chinese Following Long-Term Treatment with Flunarizine or Topiramate.” The International Journal of Neuroscience 122, no.9 (September 2012): 506-510.

DiRosa G, Spano M, Pustorino G, et al. “Alternating Hemiplegia of Childhood Successfully Treated with Topiramate: 18 Months of Follow-up.” Neurology 66, no.1 (January 10, 2006): 146-.

Golumbek P, Rho J, Spain Wm van Brederode J. “Effects of Flunarizine on Spontaneous Synaptic Currents in Rat Neocortex.” Naunyn-Schmiedeberg’s Archives of Pharmacology 30, no. 3 (September 2004): 176-182.

Gulati P, Muthuraman A, Kaur P. “Investigation of the Role of Non-Selective Calcium Channel Blocker (flunarizine) on Cerebral Ischemic-Reperfusion Associated Cognitive Dysfunction in Aged Mice.” Pharmacology, Biochemistry, and Behavior 131 (April 2015): 26-32.

Haffejee S, Santosh PJ. “Treatment of Alternating Hemiplegia of Childhood with Aripiprazole.” Developmental Medicine and Child Neurology 51, no. 1 (January 2009): 74-77.

Hainque E, Caillet S, Leroy S, Flamand-Roze C, Adanyeguh I, Charbonnier-Beaupel F, Retail M, Le Toullec B, Atencio M, Rivaud-Péchoux S, Brochard V, Habarou F, Ottolenghi C, Cormier F, Méneret A, Ruiz M, Doulazmi M, Roubergue A, Corvol JC, Vidailhet M, Mochel F, Roze E. “A Randomized, Controlled, Double-blind, Crossover Trial of Triheptanoin in Alternating Hemiplegia of Childhood.” Orphanet Journal of Rare Disease. 2017 Oct 2; 12(1): 160.

Jiang W, Chi Z, Ma L, Du B, Shang W, Guo H, Wu W. “Topiramate: A New Agent for Patients with Alternating Hemiplegia of Childhood.” Neuropediatrics 37, no. 4 (August 2006): 229-233.

Ju J, Hirose S, Shi XY, Ishii A, Hu LY, Zou LP. “Treatment with Oral ATP Decreases Alternating Hemiplegia of Childhood with de Novo ATP1A3 Mutation.” Orphanet Journal of Rare Disease 11, no. 1 (May 2016).

Kasinathan A, Sharawat IK, Sahu JK, Sankhyan N. “Topiramate Therapy in Alternating Hemiplegia of Childhood.” Indian Journal of Pediatrics. 2017 Dec; 84;(12): 957-958.

Kwon YJ, Falk MJ, Bennett MJ. “Flunarizine rescues reduced Lifespan in CLN3 Triple Knock-out Caenorhabditis Elegans Model of Batten Disease.” Journal of Inherited Metabolic Disease (October 20, 2016).

Lai KL, Niddam DM, Fuh JL, Chen SP, Wang YF, Chen WT, Wu JC, Wang SJ. “Flunarizine Versus Topiramate for Chronic Migraine Prophylaxis: A Randomized Trial.” Acta Neurologica Scandinavica (June 16, 2016).

Mohamed BP, Goadsby J, Prabhakar P. “Safety and Efficacy of Flunarizine in Childhood Migraine: 11 Years’ Experience, with Emphasis on its Effect in Hemiplegic Migraine.” Developmental Medicine & Child Neurology (January 23, 2012).

Pledger GW. “Flunarizine for Treatment of Partial Seizures: Results of a Concentration-Controlled Trial.” Neurology 44, no.10 (1994): 1830-1836.

Sasaki M, Ishii A, Saito Y, Morisada N, et al. “Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood.” Neurology (January 15, 2014).

Sasaki M, Sakuragawa N, Osawa M. “Long-term Effect of Flunarizine on Patients with Alternating Hemiplegia of Childhood in Japan.” Brain Development 23, no. 5 (August 2001): 303-305.

Shinde V, Yegnanarayan R, Shah P, Gupta A, Pophale P. “Antidepressant-Like Activity of Flunarizine in Modified Tail Suspension Test in Rats.” North American Journal of Medical Sciences 7, no. 3 (March 2015): 100-3.

Siemes, H. “Rectal Chloral Hydrate for Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology 32, no. 10 (October 1990): 931-.

Silver K, Andermann F. “Alternating Hemiplegia of Childhood: A Study of 10 Patients and Results of Flunarizine Treatment.” Neurology 43, no. 1 (January 1993): 36-41.

Sone K, Oguni H, Katsumori H, Funatsuka M, Tanaka T, Osawa M. “Successful Trial of Amantadine Hydrochloride for Two Patients with Alternating Hemiplegia of Childhood.” Neuropediatrics 31, no. 6 (December 2000): 307-309.

Veneselli E, Biancheri R. “Alternating Hemiplegia of Childhood: Treatment of Attacks with Chloral Hydrate and Niaprazine.” European Journal of Pediatrics 156, no. 2 (February 1997): 157-158.

MIGRAINE

De Vries B, Stam AH, Beker F, Van den Maagdenberg AM, Vanmolkot KR, Laan L, Ginjaar IB, Frants RR, Lauffer H, Haan J, Haas JP, Terwindt GM. “CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood.” Cephalalgia 28, no. 8 (August 2008): 887-91.

Gaul C, Kraya T, Holle D, Benkel-Herrenbruck I, Schara U, Ebinger F. “Migraine Variants and Unusual Types of Migraine in Childhood.” Schmerz (German) 25, no. 2 (April 2011): 148-156.

Lagman-Bartolome AM, Lay C. “Pediatric Migraine Variants: A Review of Epidemiology, Diagnosis, Treatment, and Outcome.” Curr Neurol Neurosci Rep. (April 24, 2015).

Kros L, Lykke-Hartmann K, Khodakhah K. “Increased Susceptibility to Cortical Spreading Depression and Epileptiform Activity in a Mouse Model for FHM2.” Scientific Reports. 2018; 8:16959. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240030/pdf/41598_2018_Article_35285.pdf

Lance JW. “Is Alternating Hemiplegia of Childhood (AHC) A Variant of Migraine?” Cephalalgia 20. no. 8 (October 2000): 685.

Lebas A, Guyant-Marechal L, Hannequin D, Riant F. “Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation.” Cephalalgia 28 (2008): 774-777.

Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. “Alternating Hemiplegia of Childhood or Familial Hemiplegic Migraine? A Novel ATP1A2 Mutation.” Annals of Neurology 55, no. 6 (June 2004): 884-887.

TREATMENT

Alderson L. “Challenges Describing Motor Profiles in Alternating Hemiplegia of Childhood.” Developmental Medicine & Child Neurology 59, no. 8 (August 2017): 778-779.

Brown A, Clark JD. “A Parent’s Journey: Incorporating Principles of Palliative Care into Practice for Children with Chronic Neurologic Diseases.” Seminars in Pediatric Neurology (May 12, 2015).

Dundar NO, Cavusoglu D, Kaplan YC, Hasturk MO. “An Option to Consider for Alternating Hemiplegia of Childhood: Aripiprazole.” Clin Neuropharmacol. 2019 May/Jun; 42(3): 88-90. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30893129

Lardinois KL, Guge N. “Physical Therapy for a Patient With Alternating Hemiplegia of Childhood: A Case Report.” Pediatric Physical Therapy. Jul 2019; 31(3): E8-E14. Abstract:

https://insights.ovid.com/pubmed?pmid=31220019

Jasien J, Bonner M, D’alli R, Prange L, Mclean M, Sachdev M, Uchitel J, Ricano J, Smith B, Mikati M. “Cognitive, Adaptive, and Behavioral Profiles and Management of Alternating Hemiplegia of Childhood.” Developmental Medicine & Child Neurology. 2019 May; 61(5): 547-554. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14077

Masoud M, Gordon K, Hall A, Jasien J, Lardinois K, Uchitel J, Mclean M, Prange L, Wuchich J, Mikati MA. “Motor Function Domains in Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology (May 25, 2017).

Masoud M, Prange L, Wuchich J, Hunanyan A, Mikati M. “Diagnosis and Treatment of Alternating Hemiplegia of Childhood.” Current Treatment Options in Neurology 19, no.8 (February 2017).

Roubergue A, Philibert B, Gautier A, Kuster A, MarkowiczK, Billette de Villemeur T, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D. “Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood.” JIMD Reports 15 (2015): 7-12.

Samanta D. “Management of Alternating Hemiplegia of Childhood: A Review.” Pediatr Neurol. 2019 Nov 1. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31836335

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. “ATP1A3-related Epileptic Encephalopathy Responding to Ketogenic Diet.” Brain Development. 2018 May; 40 (5): 433-438. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418300068?via%3Dihub

Van Hillegondsberg LS, Michaelis IA. “Alternating Hemiplegia of Childhood: First South African Case Report and Verapamil as a Possible Treatment Option.” S Afr Med J. 2019 Feb; 109(3): 152-153. Fulltext: http://www.samj.org.za/index.php/samj/article/view/12552/8763

Verrotti A, Iapadre G, Pisano S, Coppola G. “Ketogenic Diet and Childhood Neurological Disorders other than Epilepsy: an Overview.” Expert Review of Neurotherapeutics (November 21, 2016): pp. 1-13.

Wong VC and AK Kwong. “ATP1A3 Mutation in a Chinese Girl with Alternating Hemiplegia of Childhood – Potential Target of Treatment?” Brain and Development (February 5, 2015).

GENERAL

Al-Bulushi B, Al-Hashem A, Tabarki B. “A Wide Clinical Phenotype Spectrum in Patients with ATP1A2 Mutations.” Journal of Childhood Neurology (October 4, 2013).

Algahtani H, Ibrahim B, Shirah B, Aldarmahi A, Abdullah A. “More than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome.” Case Reports in Medicine (August 2017).

Arnold DL, Silver K, Andermann F. “Evidence for Mitochondrial Dysfunction in Patients with Alternating Hemiplegia of Childhood.” Annals of Neurology 33, no.6 (June 1993): 604-607.

Auvin S, Joriot-Chekaf S, Cuvellier JC, Pandit F, Cuisset JM, Ruchoux M, Vallee L. “Small Vessel Abnormalities in Alternating Hemiplegia of Childhood: Pathophysiologic Implications.” Neurology 66, no. 4 (February 28, 2006): 499-504.

Auvin S, Joriot-Chekaf S, Cuvellier JC, Vallee L. “Familial Alternating Hemiplegia of Childhood or Channelopathy? A Report with Valuable Pathophysiological Implications.” Developmental Medicine & Child Neurology 46, no. 7 (July 2004): 500.

Bourgeois M, Aicardi J, Goutieres, F. “Alternating Hemiplegia of Childhood. “ Journal of Pediatrics 122 (1993): 673-679.

Brockmann, K. “Episodic Movement Disorders: From Phenotype to Genotype and Back.” Curr Neurol Neurosci Rep. (October 13, 2013).

Bursztyn J, Mikaeloff Y, Kaminska A, Plouin P, Soufflet C, Dulac O, Chaix Y. “Alternating Hemiplegia of Childhood and Oculomotor Anomalies.” Journal Francais D’Ophtalmologie 23, no. 2 (February 2000): 161-164.

Carecchio M, Mencacci NE. “Emerging Monogenic Complex Hyperkinetic Disorders.” Curr Neurol Neurosci Rep. 2017 Oct 30; 17(12):97.

Chaves-Vischer V, Picard F, Andermann E, Dalla Bernardina B, Andermann F. “Benign Nocturnal Alternating Hemiplegia of Childhood: Six Patients and Long-Term Follow-Up.” Neurology 57, no. 8 (October 23, 2001): 1491-1493.

Chen H, Liu P, Hu W, et al. “Alternating Hemiplegia of Childhood and Epilepsy in an Infant.” Chinese Journal of Contemporary Pediatrics 19, no.9 (September 4, 2017): 959-960. (in Chinese)

Egan RA. “Ocular Motor Features of Alternating Hemiplegia of Childhood.” Journal of Neurophthalmology 22, no. 2 (June 2002): 99-101.

Fons C, Campistol J, Panagiotakaki E, et al. “Alternating Hemiplegia of Childhood: Metabolic Studies in the Largest European Series of Patients.” European Journal of Paediatric Neurology 16, no.1 (January 2012): 10-14.

Fons C, Campistol J, Narbona J, Velazquez R, Eiris J, Garcia Penas J. “Alternating Hemiplegia of Childhood in Spanish Population, Study of a Series of 17 Patients.” Med Clin (Barc) 13 (April 26, 2008): 577-579. (In Spanish)

Gergont A, Kacinski M. “Alternating Hemiplegia of Childhood: New Diagnostic Options.” Neurol Neurochir Pol. 48, no.2 (February 2015).

Granata T, Vigevano F. Alternating Hemiplegia: Italian White Book for Understanding and Managing this Rare Disease. Associazione Italiana per la Sindrome di Emiplegia Alternante. Italy, 2007.

Gurrieri F, Tiziano FD, Zampino G, Neri G. “Recognizable Facial Features in Patients with Alternating Hemiplegia of Childhood.” American Journal of Medical Genetics: Part A. 170, no. 10 (October 2016): 2698-2705.

Hoei-Hansen C, Dali C, Lyngbye T, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology (September 25, 2013).

Incorpora G, Pavone P, Cocuzza M, Privitera M, Pavone L, Ruggieri M. “Neuronatal Onset of Bath-Induced Alternating Hemiplegia of Childhood.” European Journal of Paediatric Neurology 14. no. 2 (May 2010): 192-193.

Incorpora G, Pavone P, Polizzi A, et al. “An 11-Year Follow-up Study of Neonatal-Onset, Bath-induced Alternating Hemiplegia of Childhood in Twins.” Journal of Child Neurology 27, no. 5(May 2012): 657-662.

Jaffer F, Avbersek A, Kaski J, Parton M, Houlden H, Hanna M, Cross JH, Sisodiya S. “Cardiac Features in Adults with Alternating Hemiplegia.” Journ of Neurology and Neurosurgery Psychaitry (2014): 85.

Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM. “Faulty Cardiac Repolarization Reserve in Alternating Hemiplegia of Childhood Broadens the Phenotype.” Brain (October 2015).

Kansagra S, Ghusayni R, Kherallah B, Gunduz T, McLean M, Prange L, Kravitz RM, Mikati MA. “Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.” J Clin Sleep Med. 2019 Jan 15; 15(1): 65-70. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30621840

Kansagra, S, Mikati, Mohamad, Vigevano, F. “Alternating Hemiplegia of Childhood.” Handbook of Clinical Neurology 112 (2013): 821-826.

Kramer U, Nevo Y, Margalit D, et al. “Alternating Hemiplegia of Childhood in Half-sisters.” Journal of Child Neurology 15, no. 2 (2000): 128–30.

Luo R. “Diagnosis of Alternating Hemiplegia of Childhood,” Chinese Journal of Contemporary Pediatrics 19, no.9 (September 4, 2017): 959-960. (in Chinese)

Maas R, Kamsteeg E, Mangano S, Lopez M, Nicolai J, Silver K, Fernandez-Alvarez E, Willemsen M. “Benign Nocturnal Alternating Hemiplegia of Childhood: A Clinical and Nomenclatural Reappraisal.” European Jourrnal of Paediactric Neurology. 2018 Nov; 22(6): 1110-1117. Abstract: https://www.sciencedirect.com/science/article/pii/S1090379818302356#!

Maeshima S, Tsunoda T, Okamoto S, Ozeki Y, Sonoda S. “Alternating Hemiplegia with Ipsilateral Supranuclear Facial Palsy and Abducens Nerve Palsy Caused by Pontine Infarction.” Internal Medicine 55, no. 15 (2016): 2073-2075.

Mangano S, Fontana A, Spitaleri C, Mangano GR. “Benign Nocturnal Alternating Hemiplegia of Childhood: A New Case with Unusual Findings.” Brain Dev. 36, no. 5 (May 2014): 408-410.

Mehrotra R. “General Anesthesia for a Patient with Alternating Hemiplegia of Childhood.” Canadian Journal of Anesthesia 52, no. 10 (December 2005): 1103-1104.

Millichap, JG. “Alternating Hemiplegia and Cardiac Dysrhythmia.” Pediatric Neurology Briefs (September 2015).

Mikati, MA. “Alternating Hemiplegia of Childhood.” Pediatric Neurology 21, no. 4 (October 1999): 764-.

Mikati, MA. “A Syndrome of Autosomal Dominate Alternating Hemiplegia: Clinical Presentation Mimicking Intractable Epilepsy: Chromosomal Studies; and Physiologic Investigations.” Neurology 43 (1992): 2251-2257.

Mikati M, Fischman A. “PET Scan Findings in Alternating Hemiplegia of Childhood.” Alternating Hemiplegia of Childhood (1995): 109–114.

Mikati MA, Kramer U, Zupanc ML, Shanaha RJ. “Alternating Hemiplegia of Childhood: Clinical Manifestations and Long-Term Outcome.” Pediatric Neurology 23, no. 2 (August 2000): 134-141.

Mikati M, O’Tuama L, Dangond F. “Autosomal Dominant Alternating Hemiplegia of Childhood.” Alternating Hemiplegia of Childhood (1995): 125–134.

Motoki T, Sasaki M, Ishii A, Hirose S. “Characteristic Asymmetric Abnormal Eye Movement and Dystonic Posture as the First Symptoms of Alternating Hemiplegia of Childhood.” No To Hattatsu (March 2016). (Japanese)

Muriel V, Garcia-Molina A, Aparicio-Lopez C, Ensenat A, Roig-Rovira T. “Neuropsychological Deficits in Alternating Hemiplegia of Childhood: a Case Study.” Revista de Neurologica (July 1, 2015) (In Spanish).

Montirosso R, Ceppi E, D’aloisio C, Zucca C, Borgatti R. “International Classification of Functioning, Disability and Health in Subjects with Alternating Hemiplegia of Childhood.” Disability & Rehabilitation 31, Supplement (2009): S108-15.

Nakashima T, Yasuda K, Kobayashi M, Wada H, Ishii A, Hirose S. “Heart Rate Variability in a Patient with Alternating Hemiplegia.” Intractable Rare Diseases Research. 2019 May; 8(2): 134-137. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557234/

Nechay A, Stephenson JB. “Bath-Induced Paroxysmal Disorders in Infancy.” European Journal of Paediatric Neurology 13, no. 3 (May 2009): 203-208.

Neville B, Besag F, Marsden C. “Exercise Induced Steroid Dependent Dystonia, Ataxia, and Alternating Hemiplegia Associated with Epilepsy.” Journal of Neurology, Neurosurgery, and Psychiatry 65, no. 2 (August 1998): 241-244.

Neville BG, Ninan M. “The Treatment and Management of Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurolog 49, no.10 (October 2007): 777-80.

Nevsimalova S, Dittirch J, Havlova M, Tauberova A, Korsova B, Hajek M, Masopust J, Michalova K. “Alternating Hemiplegia of Childhood: A Cross-sectional Study.” Brain & Development 16 (1994): 190-94.

Padmanabha H, Goswami JN, Sahu JK, Swaboda KJ, Singhi P. “Alternating Hemiplegia of Childhood with Novel Features.” Indian Journal of Pediatrics 84, no. 6 (June 2017): 473-474.

Panagiotakaki E. “Alternating Hemiplegia of Childhood: The Gap Between Paroxysmal Manifestations and Non-Paroxysmal Characteristics.” Developmental Medicine & Child Neurology. 2019 May; 61(5): 506. Fulltext: https://onlinelibrary.wiley.com/doi/full/10.1111/dmcn.14137

Panagiotakaki E, Gobbi G, Neville B, et al. “Evidence of a Non-Progressive Course of Alternating Hemiplegia of Childhood: Study of a Large Cohort of Children and Adults.” Brain, a Journal of Neurology 133 Pt. 12 (December 2010): 3598-3610.

Parris-Piper T. “Caesarean Section Under General Anaesthetic in a Woman with Alternating Hemiplegia of Childhood.” International Journal of Obstetric Anesthesia 11, no. 4 (October 2002): 317-320.

Pellegrin S, Cantalupo G, Opri R, Dalla Bernardina B, Darra F. “EEG Findings during Paroxysmal Hemiplegia in a Patient with GLUT1-deficiency.” European Journal of Paediatric Neurology 21, no. 3 (May 2017): 580-582.

Pfund Z, Chugani D, Muzik O, Behen M, Lee J, Chakraborty P. “Alpha(11C) Methyl-L-typtophan Positron Emission Tomography in Patients with Alternating Hemiplegia of Childhood.” Journal of Child Neurology 17 no. 4 (April 2002): 253-260.

Pisciotta L, Gherzi M, Stagnaro M et al. “Alternating Hemiplegia of Childhood: Pharmacological Treatment of 30 Italian Patients.” Brain & Development 39, no. 6 (June 2017): 521-528.

Polanowska K, Dziezyc K, Rosewich H, Ohlenbusch A, Seniow J. “Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.” Cognitive and Behavioral Neurology. Dec 2018; 31(4): 214-219. Abstract: https://insights.ovid.com/pubmed?pmid=30562231

Rho JM, Chugani HT. “Alternating Hemiplegia of Childhood: Insights into its Pathophysiology.” Journal of Child Neurology 3 (January 1998): 39-45.

Rinalduzzi S, Valeriani M, Vigevano F. “Brainstem Dysfunction in Alternating Hemiplegia of Childhood: A Neurophysiological Study.” Cephalalgia 26, no. 5 (May 2006): 511-519.

Rubio E, Rodriguez-Navarro M, Garcia-Munoz M, Alonso J. “Major Ambulatory Surgery in a Patient with Alternating Hemiplegia of Childhood.” Rev Esp Anestesiol Reanim (January 2008): 59-60. (In Spanish)

Saito Y, Inui T, Sakakibara T, et al. “Evolution of Hemiplegic Attacks and Epileptic Seizures in Alternating Hemiplegia of Childhood.” Epilepsy Research 90, no. 3 (August 2010): 248-258.

Saito Y, Sakuragawa N, Sasaki M, Sugai K, Hashimoto T. “A Case of Alternating Hemiplegia of Childhood with Cerebellar Atrophy.” Pediatric Neurology 19, no. 1 (July 1998): 65-68.

Saltik S, Cokar O, Uslu T, Uluduz D, Dervent A. “Alternating Hemiplegia of Childhood: Presentation of Two Cases Regarding the Extent of Variability.” International Epilepsy Journal 6, no (March 2004): 45-48.

Sasaki M, Ishii A, Saito Y, Hirose S. “Intermediate Form between Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia-Parkinsonism.” Movement Disorders (September 30, 2013).

Sasaki M, Ishii A, Yoshiaki S, Hirose S. “Progressive Brain Atrophy in Alternating Hemiplegia of Childhood.” Movement Disorders: Clinical Practice 4, no. 3 (May/June 2017): 406-411.

Sasaki M, Matsufuji H, Inui T, et al. “Absence of Small-Vessel Abnormalities in Alternating Hemiplegia of Childhood.” Brain & Development 33, no. 5 (May 2011): 390-393.

Sasaki M, Sakuma H, Fukushmia A, Yamada K, Ohnishi T, Matsuda H. “Abnormal Cerebral Glucose Metabolism in Alternating Hemiplegia of Childhood.” Brain Development 31, no. 1 (January 2009): 20-26.

Save J, Poncelin D, Auvin S. “Caregiver’s Burden and Psychosocial Issues in Alternating Hemiplegia of Childhood.” Eur J Paediatr Neurol. (May 11, 2013).

Severino M, Pisciotta L, Tortora D, Toselli B, Stagnaro M, Cordani R, Morana G, Zicca A, Kotzeva S, Zanaboni C, Montobbio G, Rossi A, De Grandis E; IBAHC Consortium. “White Matter and Cerebellar Involvement in Alternating Hemiplegia of Childhood.” J Neurol. 2020 Jan 16. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31950366

Shafer ME, Mayfield JW, McDonald F. “Alternating Hemiplegia of Childhood: A Study of Neuropsychological Functioning.” Applied Neuropsychology 12, no. 1 (2005): 49-56.

Shiota N, Shimono M, Tomioka S, et al. “A Boy with Nystagmus, Refractory Dystonia and Apneic Attack Due to Alternating Hemiplegia of Childhood.” Brain and Development 39, no. 4 (July 2007): 285-288.

Siemes H, Cordes M. “Single-photon Emission Computed Tomography Investigations of Alternating Hemiplegia of Childhood.” Developental Medicine & Child Neurology 35, no. 4 (April 1993) 346-350.

Spina Silva T, Antoniuk S, Bruk I, Crippa, A. “Post-ictal EEG Findings in a Patient Diagnosed with Alternating Hemiplegia of Childhood (AHC).” Journal of the Neurological Sciences 333, Supplement 1 (October 15, 2013): e630.

Stern WM, Desikan M, Hoad D, Jaffer F, Strigaro G, Sander JW, Rothwell JC, Sisodiya SM. “Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study.” PLos ONE 11, no. 3 (March 21, 2016).

Takeuchi M, Saito K, Kajimoto K, Nagatsuka K. “Successful Corticosteroid Treatment of Refractory Spontaneous Vasoconstriction of Extracranial Internal Carotid and Coronary Arteries.” The Neurologist (July 2016): 55-57.

Tan AH, Ong TL, Ramli N, Tan LK, Lim JL, Azhan MA, Ahmad-Annuar A, Ibrahim KA, Abdul-Aziz Z, Ozelius LJ, Brashear A, Lim SY. “Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities.” Journal of Movement Disorders. 2019 May; 12(2): 132-134. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547042/

Tatli B, Aydinli N, Caliskah M, et al. “Clinical Features of Nine Patients with Alternating Hemiplegia of Childhood.” Journal of Paediatrics and Child Health 47, no. 10 (October 2011): 734-736.

Tenney, JR, Schapiro MB. “Child Neurology: Alternating Hemiplegia of Childhood.” Neurology 74, no.14 (April 6, 2010): E57-E59.

Tello J, Ruiz I, Herrera L, Miranda A, Alid P, Troncoso M. “Monocular Nystagmus in a Patient with Alternating Hemiplegia of Childhood.” Neurology. 2019 Aug 20;93(8):361. No Abstract

Traut M, Cavagnari B, Mendez JH, Amartino H. “Alternating Hemiplegia of Childhood: A Case Report and Literature Review.” Arch Argent Pediatr (October 2012). (In Spanish)

Ulate-Campos A., Fons C, Campistol J. Martorell L, Cancho-Cadela R, Eiris J, Lopez-Laso E, Pineda M, Sans A, Velazquez R. “Alternating Hemiplegia of Childhood: ATP1A3 Gene Analysis in 16 Patients.” Med Clin. (April 23, 2014). (in Spanish)

Ulate-Campos A, Fons C, Artuch R, Castejon E, Martorell L, Ozelius L, Pascual J, Campistol, J. “Alternating Hemiplegia of Childhood with a De Novo Mutation in APT1A3 and Changes in SLC2A1 Responsive to Ketogenic Diet.” Pediatric Neurology (December 6, 2013).

Vasconcelos MM, Vasconcelos LGA, Brito AR. “Assessment of Acute Motor Deficit in the Pediatric Emergency Room.” Jornal de Pediatria, 93, supp. 1 (November-December 2017): 26-35.

Verret S and JC Steele. “Alternating Hemiplegia in Childhood: A Report of Eight Patients with Complicated Migraine Beginning in Infancy.” Pediatrics 47 (1971): 675-680.

Villega F, Picard F, Espil-Taris C, et al. “Benign Nocturnal Alternating Hemiplegia of Childhood: Two Cases with Positive Evolution.” Brain & Development 33, no. 6 (June 2011): 525-529.

Vollono C, Rinalduzzi S, Milliucci R, Vigevano F, Valerianai M. “Somatosensory System Hyperexcitability in Alternating Hemiplegia of Childhood.” Eur J Neurol. 2014 Dec; 21(12): 1478-e97.

Wagener-Schimmel L, Nicolai J. “Child Neurology: Benign Nocturnal Alternating Hemiplegia of Childhood.” Neurology 79, no. 18 (October 30, 2012): 161-163.

Winchester S, Singh P, Mikati M. “Chapter 127 – Ataxia.” Handbook of Clinical Neurology 112 (2013): 1213-1217.

Zhang Y, Sun W, Qin J, Jiang Y, Wu X. “Clinical Characteristics of Alternating Hemiplegia of Childhood in 13 Patients.” Chinese Journal of Pediatrics 41, no. 9: 680-683.