AHC Publication Hub

The AHC Foundation is pleased to provide the AHC community with a centralized platform for published literature regarding AHC. The Publication Hub is an excellent resource for anyone seeking the latest information about AHC research and topics related to this rare disease. While this bibliography is in no way complete, it is a comprehensive record of academic and scientific publications relevant to our community.

When a full text version of the article is available free of charge on the internet, a link is provided. Otherwise, abstracts from the article can be helpful and found on Pub Med at: https://pubmed.ncbi.nlm.nih.gov/

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

Recent Publications (last six months)

Severino M, Pisciotta L, Tortora D, Trò R, Parodi C, Stagnaro M, Panzeri S, Gherzi M, Martinez Popple M, Cordani R, Nobili L, Fato MM, Rossi A, De Grandis E. Structural Connectome Alterations in Alternating Hemiplegia of
Childhood. Brain Topogr. 2026 Jul 10;39(5):77.
https://link.springer.com/article/10.1007/s10548-026-01231-5

Lin A, Grant G, Harward S, Agashe S, Jasien JM, Boggs A, Mikati MA. Deep Brain Stimulation for Dystonia and Epilepsy in Alternating Hemiplegia of Childhood. Mov Disord. 2026 Jul;41(7):1899-1901.
https://pmc.ncbi.nlm.nih.gov/articles/PMC13387980/pdf/MDS-41-1899.pdf

Morales-Briceño H, Mohammad SS, Angiti RR, Han V, Tchan M, Dale RC, Fung VSC. Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies. Mov Disord Clin Pract. 2026 Jun 15
https://pmc.ncbi.nlm.nih.gov/articles/PMC13339114/

Kravljanac R, Klaassen K, Oparnica V, Tadic BV, Andjelkovic M, Skakic A, Stankovic S, Stojiljkovic M. RHOBTB2-Associated Neurological Phenotypes and Underlying Mechanisms: Alternating Hemiplegia of Childhood Beyond ATP1A3. Diseases. 2026 May 9;14(5).
https://pmc.ncbi.nlm.nih.gov/articles/PMC13205392/pdf/diseases-14-00166.pdf

Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D’Acunto L. ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. Neurol Sci. 2026 May 19;47(6):499.
https://pmc.ncbi.nlm.nih.gov/articles/PMC13183691/pdf/10072_2026_Article_9101.pdf

Wall DA, Friedberg AM, Lins J, Khalifa R, Partipillo S, Hart AC. Caenorhabditis elegans models of alternating hemiplegia of childhood have dominant neuromuscular junction defects. Dis Model Mech. 2026 May 1;19(5).
https://pmc.ncbi.nlm.nih.gov/articles/PMC13267776/pdf/dmm-19-052809.pdf

Bernardi K, Zhou A, Yang K, Rong J, Quiroz V, Alecu JE, Agianda HAP, Schmidt HJD, Tam A, Carty S, Espasandin-Hueter N, Macaya A, Stamelou M, Pringsheim T, Means M, Lakhotia A, Blackburn J, Zea Vera A, Becker LF, Brüggemann N, Münchau A, Seliverstov Y, Vogt L, Gorodetsky C, Levine JM, Runco AD, Calame DG, Dai L, Ding C, Ebrahimi-Fakhari D. The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients. Mov Disord. 2026 May;41(5).
https://pmc.ncbi.nlm.nih.gov/articles/PMC13401257/pdf/nihms-2192330.pdf

Wall DA, Friedberg AM, Lins J, Khalifa R, Partipillo S, Hart AC. C. elegans models of Alternating Hemiplegia of Childhood have dominant neuromuscular junction defects. bioRxiv [Preprint]. 2026 Apr 26:2026.
https://pmc.ncbi.nlm.nih.gov/articles/PMC13131465/pdf/nihpp-2026.04.22.720250v1.pdf

Bidzimou MK, Muralidharan P, Zhang Z, Raza D, Needs D, Sun B, Perelli RM, Moya-Mendez ME, Manivannan PKR, Hunanyan AS, Helfer A, Simmons CQ, George AL Jr, Bers DM, Bursac N, Mikati MA, Landstrom AP. D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload. JCI Insight. 2026 Apr 8;11.
https://pmc.ncbi.nlm.nih.gov/articles/PMC13134723/pdf/jciinsight-11-197721.pdf

Leite JA, de Oliveira Barbosa LA, Woods RL, El-Mallakh RS. Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood. Orphanet J Rare Dis. 2026 Feb 3;21(1).
https://pmc.ncbi.nlm.nih.gov/articles/PMC12958681/pdf/13023_2026_Article_4235.pdf

Yagita K, Kanazawa K, Sano T, Toda K, Nakayma Y, Kagaya R, Sato N, Takahashi Y, Takao M. Bizarre astrocytes with cytoplasmic/intranuclear inclusions in an individual with alternating hemiplegia, migraine, and brain swelling associated with a GGC repeat expansion in NOTCH2NLC. Clin Neuropathol. 2026 Jan-Feb;45(1):17-25.
https://www.dustri.com/nc/article-response-page.html?artId=192481&doi=

Adeno-Associated Virus (AAV) & Gene Editing

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

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

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

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).
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548848/

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

Shen G, Liao Y, Lin P. CRISPR-based prime editing improves therapeutic outcomes for childhood alternating hemiplegia. Precis Clin Med. 2025 Oct 1;8(4):pbaf024.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12587762/pdf/pbaf024.pdf

Sousa AA, Terrey M, Sakai HA, Simmons CQ, Arystarkhova E, Morsci NS, Anderson LC, Xie J, Suri-Payer F, Laux LC, Roze E, Forlani S, Gao G, Frost S, Frost N, Sweadner KJ, George AL Jr, Lutz CM, Liu DR. In vivo prime editing rescues alternating hemiplegia of childhood in mice. Cell. 2025 Aug 7;188(16):4275-4294.e23.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12702498/pdf/nihms-2127386.pdf

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.

Dai L, Ding C, Tian X, Liu M, Ma Y, Chen C, Ren X, Li H. The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients. Brain Dev. 2023 Sep;45(8):422-431.
https://pubmed.ncbi.nlm.nih.gov/37142513/

Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M, Saitsu H. Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence. Am J Med Genet A. 2024 Mar;194(3):e63453.
https://pubmed.ncbi.nlm.nih.gov/37870493/

Hiekkala ME, et al. “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.
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.

Monteiro FP, et al. “Biallelic Loss of Function Variants in ATP1A2 Cause Hydrops Fetalis, Microcephaly, Arthrogryposis and Extensive Cortical Malformations.” Eur J Med Genet. 2019 Jan.
https://www.sciencedirect.com/science/article/pii/S1769721218308024?via%3Dihub

Sampedro Castaneda M, et al. “A Novel ATP1A2 Mutation in a Patient with Hypokalaemic Periodic Paralysis and CNS Symptoms.” Brain. 2018 Dec; 141 (12): 3308-3318.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219/pdf/awy283.pdf

Satake S, Yokota S, Ikeda K. Enhanced amygdala inhibitory neurotransmission and its vulnerability to hyperthermic stress in Atp1a2-deficient heterozygous mice. J Neurophysiol. 2025 Jul 1;134(1):216-228.
https://journals.physiology.org/doi/full/10.1152/jn.00157.2025?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org

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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384024/

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.
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.
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, et al. “An Infant with Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.” Pediatric Neurology 75 (October 2017): 87-90.

Zhang X, Qiu S, Yang L, Li Y, Xu L, Xu N, Mi C, Li M. A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia. Mol Genet Genomic Med. 2023 May;11(5):e2146.
Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178798/pdf/MGG3-11-e2146.pdf

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.

Balint B, Stephen CD, et al. “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.
https://www.ncbi.nlm.nih.gov/pubmed/31061839

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).

Calame DG, Moreno Vadillo C, Holmgren M, Yano ST. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 Aug 1;146(8):3162-3171.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393399/

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.
https://www.sciencedirect.com/science/article/pii/S1090379817318949?via%3Dihub

Chaumette B, Ferrafiat V, et al. “Missense Variants in ATP1A3 and FXYD GeneFamily are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12.
https://www.nature.com/articles/s41380-018-0103-8

Czylok MA, Prokopiuk M, Meller K, Zawadzka M, Mazurkiewicz-Bełdzińska M. Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review. J Child Neurol. 2025 Oct;40(9):794-798.
https://journals.sagepub.com/doi/10.1177/08830738251327707?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

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).

De Vrieze J, et al. “Expanding Phenotype of ATP1A3 – Related Disorders: A Case Series.” Child Neurol Open. 2021 Nov 3;8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573619/pdf/10.1177_2329048X211048068.pdf

Di Michele M, et al. “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, et al. “A Transgenic Mouse Model to Selectively Identify α3 Na,K-ATPase Expressing Cells in the Nervous System.” Neuroscience. 2018 Jul 19.
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.

Duat-Rodríguez A, et al. “ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.” Eur J Paediatr Neurol. 2021 Sep;34:105-109.
https://www.ejpn-journal.com/article/S1090-3798(21)00155-0/fulltext

Fernandes C, Mikati MA. “The Expanding Spectrum of ATP1A3 Related Disease.” Eur J Paediatr Neurol. 2019 May; 23(3): 345-346.

Fujii F, Kanemasa H, Okuzono S, Setoyama D, Taira R, Yonemoto K, Motomura Y, Kato H, Masuda K, Kato TA, Ohga S, Sakai Y. ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress. Dis Model Mech. 2024 Jun 1;17(6):dmm050574.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11247502/pdf/dmm-17-050574.pdf

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.
http://www.bmhim.com/frame_esp.php?id=70

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, et al. “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.
https://www.sciencedirect.com/science/article/pii/S0387760418300895?via%3Dihub

Heimer G, et al. “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, Mikati MA. “Novel E815K Knock-in Mouse Model of Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 Nov; 119: 100-112.
https://www.sciencedirect.com/science/article/pii/S0969996118303504?via%3Dihub

Hoei-Hansen C, et al. “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).

Huang D, Song X, Ma J, Li X, Guo Y, Li M, Luo H, Fang Z, Yang C, Xie L, Jiang L. ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA. Eur J Pediatr. 2023 Feb;182(2):825-836.
Abstract: https://link.springer.com/article/10.1007/s00431-022-04744-w

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.
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, et al. “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, et al. “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-.

Kostopoulou E, Avgeri A, Apostolou MI, Tzifas S, Dimitriou G. A novel presentation of an ATP1A3 gene mutation – case report and literature review. Eur Rev Med Pharmacol Sci. 2022 Feb;26(4):1108-1113.
https://www.europeanreview.org/article/28100

Lacombe D, Van-Gils J, Lebrun M, Trimouille A, Michaud V, Cabet S, Chateil JF, Pedespan JM, Bar C, Lesca G. Hemidystonia with polymicrogyria is part of ATP1A3-related disorders. Brain Dev. 2022 Sep;44(8):567-570.
https://pubmed.ncbi.nlm.nih.gov/35623960/

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).

Li Y, Liu X, Wang C, Su Z, Zhao K, Yang M, Chen S, Zhou L. Molecular and clinical characteristics of ATP1A3-related diseases. Front Neurol. 2022 Jul 26;13:924788.
Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9373902/pdf/fneur-13-924788.pdf

Liu YB, Arystarkhova E, Sacino AN, Szabari MV, Lutz CM, Terrey M, Morsci NS, Jakobs TC, Lykke-Hartmann K, Brashear A, Napoli E, Sweadner KJ. Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3tm1Ling/+ and Atp1a3 +/D801Y. eNeuro. 2024 Aug 28;11(8):ENEURO.0101-24.2024
https://pmc.ncbi.nlm.nih.gov/articles/PMC11360364/

Martin AJ, Ong TL, Briceno-Morales H, Tchan M, Fung VSC. ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis? Mov Disord Clin Pract. 2022 Sep 30;9(8):1120-1123.
Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631839/pdf/MDC3-9-1120.pdf

Marzin P, Panagiotakaki E, Doummar D et al. “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.
https://www.brainanddevelopment.com/article/S0387-7604(18)30214-6/fulltext

Mertens A, Papadopoulou MT, Papathanasiou Terzi MA, Lesca G, Biela M, Smigiel R, Panagiotakaki E. Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic
disorder. Epileptic Disord. 2024 Dec;26(6):847-852.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11651374/

Moreno C, Jiao S, Yano S, Holmgren M. Disease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III. PNAS Nexus. 2022 Oct 8;1(4):pgac205.
Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9585393/pdf/pgac205.pdf

Moriyama K, Mizuno T, Suzuki T, Inaji M, Maehara T, Fujita A, Kato M, Matsumoto N. ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report. Brain Dev. 2023 Jan;45(1):77-81.
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Moya-Mendez ME, Bidzimou MT, Muralidharan P, Zhang Z, Ezekian JE, Perelli RM, Parker LE, Prange L, Boggs A, Kim JJ, Howard TS, Word TA, Wehrens XHT, Reyes Valenzuela G, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Zawadzka M, Mazurkiewicz-Beldzinska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Pavlicek M, Ess K, Simmons CQ, George AL Jr, Vavassori R, Mikati MA, Landstrom AP. ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias. JAMA Pediatr. 2025 May 1;179(5):529-539.
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Moya-Mendez ME, Mikati MA, Landstrom AP. “ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.” J Am Heart Assoc. 2021 Sep 7;10(17).
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Muthaffar OY, Alqarni A, Shafei JA, Bahowarth SY, Alyazidi AS, Naseer MI. “Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.” Genes Genomics. 2024 Apr;46(4):475-487.
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Nakamura Y, et al. “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.
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Ng HWY, Ogbeta JA, Clapcote SJ. Genetically altered animal models for ATP1A3-related disorders. Dis Model Mech. 2021 Oct 1;14(10).
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Nicita F, et al. “Childhood-onset ATP1A3-related Conditions: Report of Two New Cases of Phenotypic Spectrum.” Parkinsonism Related Disorders 30 (September 2016): 81-82.

O Dwyer G, Flitcroft I. Paediatric retinal dystrophy associated with ATP1A3 in a child with a background of alternating hemiplegia of childhood. Ophthalmic Genet. 2025 Dec 15:1-3.
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Oblak AL, Sweadner KJ, 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, 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, Mikati MA, Heinzen EL et al. “Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.” Eur J Hum Genet. 2024 Feb;32(2):224-231.
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Panagiotakaki E, De Grandis E, 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).

Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E. Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review. Medicine (Baltimore). 2022 Aug 5;101(31):e29413.
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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.

Ruan DD, Zou J, Liao LS, Ji MD, Wang RL, Zhang JH, Zhang L, Gao MZ, Chen Q, Yu HP, Wei W, Li YF, Li H, Lin F, Luo JW, Lin XF. In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. Front Neurosci. 2024 Jul 31;18:1415576.
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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.
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Sandoval F, López F. “Hemiplejía Alternante de la Infancia asociada a variante patogénica del gen ATP1A3 [Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene].” Andes Pediatr. 2022 Feb;93(1):117-122. Spanish.
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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.
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Shrivastava A, Triller A, Melki R. “Cell Biology and Dynamics of Neuronal Na+/K+-ATPase in Health and Diseases.” Neuropharmacology. 2018 Dec 11.
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.
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Simpson AJ, McLellan A, Behl KE, Brown J, Clapcote SJ, Cross JH, van den Maagdenberg AMJM, Vezyroglou AN, Balestrini S, Sisodiya SM. Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases: Insights From a Decade of Discovery and Collaboration. Neurol Genet. 2025 Sep 30;11(5):e200308.
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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.
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).

Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, Landstrom AP. Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction. medRxiv [Preprint]. 2024 Oct 31:2024.08.31.24312446.
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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.
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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.
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Termsarasab P, Yang AC, Frucht SJ. “Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.” Tremor and Other Hyperkinetic Movements (September 16, 2015).

Terrey M, Krivoshein G, Adamson SI, Arystarkhova E, Anderson L, Szwec J, McKee S, Jones H, Perkins S, Selvam V, Piec PA, Chhaya D, Dehn A, Zuberi A, Murray SA, Morsci NS, Sweadner KJ, Knowles DA, Tolner EA, van den Maagdenberg AMJM, Lutz CM. Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice. Neurobiol Dis. 2025 Aug;212:106954.
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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.
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Yanartaş MS, Köken ÖY, Ceylan AC, Bozacı AE, Kara TT, Haspolat Ş. CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders – Case Reports. Mol Syndromol. 2025 Nov 27.
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Younes TB, et al. “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.
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Toustrup-Jensen MS, et al. “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).

Wei W, et al. “Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.” Neurol Sci. 2022 Apr;43(4):2555-2563.
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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, 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.
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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, et al. “Missense Variants in ATP1A3 and FXYD Gene Family are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12. :
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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.

Jasien J, Mikati M., et al. “Cognitive, Adaptive, and Behavioral Profiles and Management of Alternating Hemiplegia of Childhood.” Developmental Medicine & Child Neurology. 2019 May; 61(5): 547-554.
https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14077

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.

Cardiac

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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557234/

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, et al. “Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.” JAMA Netw Open. 2019 Apr 5;2(4): e192129.
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.
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.
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.
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.
https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1653978

Hunanyan AS, Verma A, Bidzimou MT, Biswas DD, Da Cruz E, Srour MK, Marek J, Hume C, Elmallah MK, Landstrom AP, Mikati MA. Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation. Epilepsia. 2025 Mar;66(3):899-913.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11908895/

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.
https://www.brainanddevelopment.com/article/S0387-7604(18)30256-0/fulltext

Marzin P, Doummar D et al. “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.
https://www.sciencedirect.com/science/article/pii/S0387760418302146?via%3Dihub

Neupert D, Abbassi P, Prange L, Flamini R, Mikati MA. “Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy.” Epileptic Disord. 2022 Feb 1;24(1):183-190.
https://pubmed.ncbi.nlm.nih.gov/34789444/

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

Pang S, D’Ambrosio S, Battaglia G, Jiménez-Jiménez D, Perulli M, Silvennoinen K, Zagaglia S, Sisodiya SM, Balestrini S. The impact of Transcranial Magnetic Stimulation (TMS) on seizure course in people with and without epilepsy. Clin Neurophysiol Pract. 2022 Jun 13;7:174-182.
Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254260/pdf/main.pdf

Parfyonov M, Ivaniuk A, Parikh S, Pestana-Knight E. “Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.” Epileptic Disord. 2023 Aug;25(4):545-548.
https://pubmed.ncbi.nlm.nih.gov/37293976/

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.
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.
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.
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.
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).

Cordani R, De Grandis E et al. Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review. Neuropediatrics. 2022 Feb;53(1):69-74.
https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0041-1739132

De Vries B, van den Maagdenberg AM, Ferrari MD et al. “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.
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

Steel D, Vezyroglou A, Barwick K, Smith M, Vogt J, Gibbon FM, Cross JH, Kurian MA. Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. Mov Disord. 2023 Jan;38(1):155-157.
Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092631/pdf/MDS-38-155.pdf

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

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.

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. The Phenotypic Continuum of ATP1A3-Related Disorders. Neurology. 2022 Oct 4;99(14):e1511-e1526.
Full text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576304/pdf/WNL-2022-200885.pdf

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).

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

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-.

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

Auvin S. Utilizing real-world evidence to investigate treatments in alternating hemiplegia of childhood: Implications for future trials in rare disease. Eur J Paediatr Neurol. 2024 Mar;49:A1.
https://www.ejpn-journal.com/article/S1090-3798(24)00040-0/abstract

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).

Carrozzi M, Morelli ME, Cirino M, Maestro A, Paternuosto G, Benericetti G, Bennati G, Bin M, Flamigni A, Pigato F, Maximova N, Barbi E, Zanon D. Oral ATP treatment in alternating hemiplegia of childhood: a case report and review. Front Med (Lausanne). 2025 Jan 7;11:1433217.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11747781/

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.

Cordani R, Pisciotta L, Stagnaro M, Mancardi MM, Lampugnani E, Manfredini L, Nobili L, Veneselli E, De Grandis E. Practical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review. Epileptic Disord. 2025 Aug;27(4):660-667.
https://pmc.ncbi.nlm.nih.gov/articles/PMC12398190/pdf/EPD2-27-660.pdf

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-.

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

Ford CP, Littlejohn RO, German R, Vuocolo B, Aceves J, Vossaert L, Owen N, Wangler M, Schmid CA; Texome Project. Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population. Mol Genet Genomic Med. 2023 Dec;11(12):e2272.
Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10724509/

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.

Kim H, Na JH, Lee H, Lee YM. Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood. Indian J Pediatr. 2024 Feb;91(2):197
Abstract: https://pubmed.ncbi.nlm.nih.gov/37646961/

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).

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

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).

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

Mandolesi S, Niglio T, Stagnaro M, De Grandis E. Clinical Improvement in a Case of Alternating Hemiplegia of Childhood After Cerebral Lymphatic Drainage. Int Med Case Rep J. 2025 Sep 29;18:1267-1278. https://pmc.ncbi.nlm.nih.gov/articles/PMC12493932/pdf/imcrj-18-1267.pdf

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).

Orgun LT, Deniz A, Güneş AS, Akkoyunlu D, Cırdı G, Gök A, Kara B. Apparent efficacy of NMDAR antagonist use as a targeted therapy for status epilepticus in an infant with ATP1A2-related developmental epileptic encephalopathy. Seizure. 2025 Mar;126:95-98.
https://www.seizure-journal.com/article/S1059-1311(25)00033-0/fulltext

Papadopoulou MT, Welniarz Q, Roubertie A, Gras D, Milh M, Panagiotakaki E, Roze E. Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood. Mov Disord. 2023 Sep;38(9):1759-1761.
Abstract: https://pubmed.ncbi.nlm.nih.gov/37466145/

Patel S, Maney K, Morris L, Papadopoulou MT, Prange L, Boggs A, Hunanyan A, Megvinov A, Vavassori R, Panagiotakaki E, Mikati MA. Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood. Eur J Paediatr Neurol. 2024 Feb 12;49:55-59
Abstract: https://pubmed.ncbi.nlm.nih.gov/38367370/

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.

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.

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