Fimage-Research

AHC Bibliogrpahy

AHCF is happy to present this bibliography of articles on Alternating Hemiplegia of Childhood and related topics. The articles included in this bibliography were selected to help parents locate information on a variety of topics related to this disorder. This is not a complete listing of all articles on Alternating Hemiplegia of Childhood.

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

Icon-GooglealertsGoogle 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

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

 

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.

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.

Gergont A, Kacinski M. “Alternating Hemiplegia of Childhood: New Diagnostic Options.” Neurol Neurochir Pol, Vol.48 No.2, Feb 2015.

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.

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, pp.9801-9811.

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.

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

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, Feb 12, 2015.

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, 2015 July, pp. 25-28. (In Spanish).

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, Mar 2015, Vol. 56, No.3.

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.

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 2015 Vol. 15, pp.7-12.

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

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.

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, pp. 56-64.

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

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.

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, Jan 2015 Vol. 35 No.1, pp.10-15.

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.


ATP1A3

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

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, 2013 Jan 25, Vol. 288 No. 4, Pages 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, 2014, Vol. 12, pp. 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, Dec 2014, pp. 850-853.

Brashear, A., Ozelius, L., Sweadner, K. “ATP1A3 Mutations: What is the Phenotype?” Neurology, February 11, 2014.

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.

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

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, May 2014, Vol. 13 No. 5, pp. 503-14.

Heinzen, E, Swoboda,  K, Hitomi, Y, and others. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.”  Nature Genetics, Sept. 2012, Vol. 44, No.9, Pages 1030-1034.

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, Jan 2014, Vol. 18 No. 1, pp. 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, pp.9801-9811.

Ikeda, K., et al. “Enhanced Inhibitory Neurotransmission in the Cerebellar Cortex of the ATP1A3-Deficient Heterozygous Mice. “  J Physiol. 2013 May 13.

Ishi A, Saito, Y, Mitsui, J, and others. “Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients.” PloS one, 2013 Feb., Vol. 8 No. 2.

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, Vol. 8 No.3.

Novy, J., McWilliams, E., Sisodiya, S. “Asystole in Alternating Hemiplegia with de novo ATP1A3 Mutation.” European Journal of Medical Genetics, January 2014, vol. 57, issue 1, pages 37-39.

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 Gen: A Neuropathologic and Neuroanatomical Study of Four Siblings.” Acta Neuropathol, May 7, 2014.

Ozelius, L. “Clinical Spectrum of Disease Associated with ATP1A3 Mutations.” Lancet Neurology. 2012 Sept. Vol. 11 No. 9, Pages 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, Mar 2015, Vol. 56, No.3.

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.

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

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, Mar 18, 2014, Vol 18 No. 82, pp.945-955.

Rosewich, H, Thiele, H, Ohlenbusch, A, and others. “Heterozygous De-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood: A Whole-Exome Sequencing Gene-Identification Study.” Lancet Neurology, 2012 Sep. Vol. 11 No.9, Pages 764-73.

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.

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

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, Feb 7, 2014, Vol. 289 No. 6, pp. 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, Dec. 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, May 2014, Vol. 9, No. 5.


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 Sep 11, 2012, pp.1168-1173.

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, Dec 19, 2014.

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, pp. 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, pp. 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, pp.436-443.

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, Vol. 8 No.3.

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, July 2011, pp. 542-550.

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, pp.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, January 17, 2007, pp.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, 2015 July, pp. 25-28. (In Spanish).

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

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

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, pp. 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, 2009 Mar, Vol. 123 No. 3, Pages  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, pp. 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, 1994 Mar, Vol.9 No.2, Pages 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, Nov 13, 2014.


EPILEPSY

Aicardi J. “Alternating Hemiplegia of Childhood.” Chapter 24 Epilepsy and Movement Disorders. Renzo G, Andermann F, Hallett M. Cambridge University Press 2002, Pages 379-392.

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

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

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. 1990, Vol.12 No.5, Pages 521-524.

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, Volume 333, Supplement 1, 15 October 2013, Page e630.


GENETICS

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

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

Aminkeng, F. “Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.”  Clinical Genetics, Jan 2013, Vol. 83 No.1, Pages 32-3.

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, 2013 Jan 25, Vol. 288 No. 4, Pages 2734-43.

Bassi MT, Bresolin N, Tonelli A. “A Novel Mutation in the ATP1A2 Gene Causes Alternating Hemiplegia of Childhood.” Journal of Medical Genetics, 2004, Vol.41 Pages 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, 2008 Nov., Vol.50 No.11, Pages 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. Oct 2006, Pages 302-304.

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

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, May 2014, Vol. 13 No. 5, pp. 503-14.

Heinzen, E, Swoboda,  K, Hitomi, Y, and others. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.”  Nature Genetics, Sept. 2012, Vol. 44, No.9, Pages 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. 2013 Sept. 25.

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

Inui, T, Saito, Y, Sakuma, H, and others. “Profiles of Blood Biomarkers in Alternating Hemiplegia of Childhood—Increased MMP-9 and Decreased Substance P Indicates its Pathophysiology.” Brain & Development. 2012, Mar., Vol. 34 No. 3, Pages 196-200.

Ishi A, Saito, Y, Mitsui, J, and others. “Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients.” PloS one, 2013 Feb., Vol. 8 No. 2.

Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. “Mutation in the Glutamate Transporter EAAT1 Causes Episodic Ataxia, Hemiplegia, and Seizures.” Neurology, 2005 Aug 23, Vol.65 No.4, Pages 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, Jun 2014, Vol. 45, No. 3, pp. 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,  2003 Dec., Vol.45 No.12, Pages 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, 2013, Vol. 8 No.3.

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 Rep, Sept 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, Feb 12, 2015.

Liu, Y., Bao, X., Wang, D., and others. “Allelic Variations of Glut-1 Deficiency Syndrome: the Chinese Experience.” Pediatric Neurology. 2012 Jul., Vol. 47 No. 1, Pages 30-34.

 Ozelius, L. “Clinical Spectrum of Disease Associated with ATP1A3 Mutations.” Lancet Neurology. 2012 Sept. Vol. 11 No. 9, Pages 741-743.

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

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, Mar 18, 2014, Vol 18 No. 82, pp.945-955.

Rosewich, H, Thiele, H, Ohlenbusch, A, and others. “Heterozygous De-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood: A Whole-Exome Sequencing Gene-Identification Study.” Lancet Neurology, 2012 Sep. Vol. 11 No.9, Pages 764-73.

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

Rotstein M, Doran J, Yang, H, Ullner PM, Engelstad K, DeVivo DC. “Glut1 Deficiency and Alternating Hemiplegia of Childhood.” Neurology, 2009 Dec 8, Vol.73 No.23, Pages 2042-2044.

Sasaki, M, Ishii, A, Saito, Y, Morisada, N, and others. “Genotype-Phenotype Correlations in Alternating Hemiplegia of Childhood.” Neurology, February 11, 2014, Vol. 82, No. 6, pp. 482-490.

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, pp. 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, Dec 5, 2014.

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, pp. 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.”

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. 2010. Dec. Vol. 41 No.6, Pages 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.

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, May 2014, Vol. 9, No. 5.


MEDICATION

Aishworiya, R., Low, P., Tay, S. “Alternating Hemiplegia of Childhood: Successful Treatment with Topiramate and Flunarizine, a Case Report.” Annals of Tropical Paediatrics. 2011. Vol. 31 No. 2, Pages 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. Oct. 2012, Page 1494.

Casaer P. “Flunarizine in Alternating Hemiplegia of Childhood: An International Study in 12 Children.” Neuropediatrics, 1987 Nov., Vol. 18 No. 4, Pages 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. Sept. 2012, Vol. 122 No.9, Pages 506-510.

DiRosa, G., Spano, M., Pustorino, G., and others. “Alternating Hemiplegia of Childhood Successfully Treated with Topiramate: 18 Months of Follow-up.” Neurology. 2006 Jan. 10. Vol. 66 No.1, Pages 146-.

Haffejee S, Santosh PJ. “Treatment of Alternating Hemiplegia of Childhood with Aripiprazole.” Developmental  Medicine and Child Neurology, 2009 Jan, Vol. 51 No. 1, Pages 74-77.

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, 2006 Aug, Vol. 37 No. 4, Pages 229-233.

Sasaki, M, Ishii, A, Saito, Y, Morisada, N, and others. “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, 2001 Aug, Vol. 23 No. 5, page 303-305.

Siemes, H. “Rectal Chloral Hydrate for Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology. 1990 Oct. Vol.  32 No. 10. Pages 931-.

Silver K, Andermann F. “Alternating Hemiplegia of Childhood: A Study of 10 Patients and Results of Flunarizine Treatment.” Neurology, 1993 Jan, Vol. 43 No. 1, Pages 36-41.

Veneselli E, Biancheri R. “Alternating Hemiplegia of Childhood: Treatment of Attacks with Chloral Hydrate and Niaprazine.” European  Journal of  Pediatrics, 1997 February, Vol. 156 No. 2, PageS 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, 2008 Aug, Vol. 28 No. 8, Pages 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), April 2011, Vol. 25 No. 2, Pages 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.

Lance JW. “Is Alternating Hemiplegia of Childhood (AHC) A Variant of Migraine?” Cephalalgia 2000, Oct. Vol. 20 No. 8, Page 685.

Lebas A, Guyant-Marechal L, Hannequin D, Riant F. “Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation.” Cephalalgia, 2008, Vol. 28, Pages 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, 2004 June, Vol. 55 No. 6, Pages 884-887.

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.


TREATMENT

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.

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 2015 Vol. 15, pp.7-12.

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, Oct. 4, 2013.

Arnold DL, Silver K, Andermann F. “Evidence for Mitochondrial Dysfunction in Patients with Alternating Hemiplegia of Childhood.” Annals of Neurology 1993 Jun, Vol.33 No.6, Pages 604-607.

Bourgeois, M,  Aicardi J., and Goutieres, F. “Alternating Hemiplegia of Childhood. “ Journal of Pediatrics. 1993, Vol. 122, Pages 673-679.

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

Egan RA. “Ocular Motor Features of Alternating Hemiplegia of Childhood.” Journal of Neurophthalmology. 2002 June, Vol. 22 No. 2, Pages 99-101.

Fons, C, Campistol, J, Panagiotakaki, E, and others. “Alternating Hemiplegia of Childhood: Metabolic Studies in the Largest European Series of Patients.” European Journal of Paediatric Neurology.  Jan 2012, Vol. 16 No.1, Pages 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). April 26, 2008, Vol. 13, Pages 577-579. (In Spanish)

Gergont A, Kacinski M. “Alternating Hemiplegia of Childhood: New Diagnostic Options.” Neurol Neurochir Pol, March 2014, Vol. 48, No. 2.

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.

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, Sept. 25, 2013.

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, Dec 19, 2014.

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. 2010 May, Vol.  14 No.  2, Pages 192-193.

Incorpora, G, Pavone, P, Polizzi, A, and others. “An 11-Year Follow-up Study of Neonatal-Onset, Bath-induced Alternating Hemiplegia of Childhood in Twins.” Journal of Child Neurology. 2012 May, Vol. 27 No. 5, Pages 657-662.

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, Mikati, Mohamad, Vigevano, F. “Chapter 85 – Alternating Hemiplegia of Childhood.”  Handbook of Clinical Neurology.  2013, Vol. 112, Pages 821-826.

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

Mehrotra R. “General Anesthesia for a Patient with Alternating Hemiplegia of Childhood.” Canadian Journal of Anesthesia, 2005 Dec., Vol. 52 No. 10, Pages 1103-1104.

Mikati MA, Kramer U, Zupanc ML, Shanaha RJ. “Alternating Hemiplegia of Childhood: Clinical Manifestations and Long-Term Outcome.” Pediatric Neurology, 2000 Aug, Vol. 23 No. 2, Pages 134-141.

Mikati, MA. “Alternating Hemiplegia of Childhood.” Pediatric Neurology. 1999 Oct. Vol. 21 No. 4, Pages 764-.

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

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, 2009 Vol. 31 Suppl., Pages S108-15.

Nechay A, Stephenson JB. “Bath-Induced Paroxysmal Disorders in Infancy.” European Journal of Paediatric Neurology. 2009 May, Vol. 13 No. 3, Pages 203-208.

Neville BG, Ninan M. “The Treatment and Management of Alternating Hemiplegia of Childhood.” Developmental  Medicine and Child Neurology, 2007 Oct, Vol. 49 No.10, Pages 777-80.

Panagiotakaki, E., Gobbi, G., Neville, B., and others. “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. 2010 Dec., Vol. 133 Pt. 12, Pages 3598-3610.

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

Rinalduzzi S, Valeriani M, Vigevano F. “Brainstem Dysfunction in Alternating Hemiplegia of Childhood: A Neurophysiological Study.” Cephalalgia, 2006 May, Vol. 26 No. 5, Pages 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. Jan 2008, Pages 59-60. (In Spanish)

Saito, Y., Inui, t., Sakakibara, T., and others. “Evolution of Hemiplegic Attacks and Epileptic Seizures in Alternating Hemiplegia of Childhood.” Epilepsy Research. 2010 Aug, Vol. 90 No. 3, Pages 248-258.

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

Sasaki, M., Matsufuji, H., Inui, T., and others. “Absence of Small-Vessel Abnormalities in Alternating Hemiplegia of Childhood.” Brain & Development. 2011 May. Vol. 33 No. 5, Pages 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, 2009 Jan., Vol. 31 No. 1, Pages 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.

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

Shiota, N., Shimono, M., Tomioka, S., and others. “A Boy with Nystagmus, Refractory Dystonia and Apneic Attack Due to Alternating Hemiplegia of Childhood.” Brain and Development. 2007 Jul. Vol.

39 No. 4, Pages 285-288.

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, Volume 333, Supplement 1, 15 October 2013, Page e630.

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, 2009 Mar, Vol. 123 No. 3, Pages e534-541.

Tatli, B., Aydinli, N., Caliskah, M., and others. “Clinical Features of Nine Patients with Alternating Hemiplegia of Childhood.” Journal of Paediatrics and Child Health. 2011 Oct. Vol. 47 No. 10, Pages 734-736.

Tenny, JR, Schapiro MB. “Child Neurology: Alternating Hemiplegia of Childhood.” Neurology, 2010 Apr 6, Vol. 74 No.14, Pages E57-E59.

Traut, M, Cavagnari, B, Mendez, JH, Amartino, H.  “Alternating Hemiplegia of Childhood: A Case Report and Literature Review.”  Arch Argent Pediatr, Oct. 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 (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, Dec. 6, 2013.

Verret, S. and J.C. Steele. “Alternating Hemiplegia in Childhood: A Report of Eight Patients with Complicated Migraine Beginning in Infancy.” Pediatrics. 1971, Vol. 47, Pages 675-680.

Villega, F., Picard, F., Espil-Taris, C., and others. “Benign Nocturnal Alternating Hemiplegia of Childhood: Two Cases with Positive Evolution.” Brain & Development. 2011 Jun. Vol. 33 No. 6, Pages 525-529.

Vollona C, Rinalduzzi S, Milliucci R, Vigevano F, Valerianai M. “Somoatosensory System Hyperexcitability in Alternating Hemiplegia of Childhood.” Eur J Neurol, Dec 2014, pp1478-e97.

Wagener-Schimmel, L, Nicolai, J. “Child Neurology” Benign Nocturnal Alternating Hemiplegia of Childhood.”  Neurology. 2012 Oct, 30. Vol. 79 No. 18, Pages 161-163.

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


ALPHABETICAL BY AUTHOR’S LAST NAME

Aicardi J. “Alternating Hemiplegia of Childhood.” Chapter 24 Epilepsy and Movement Disorders. Renzo G, Andermann F, Hallett M. Cambridge University Press 2002, Pages 379-392.

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

Al-Bulushi, B, Al-Hashem, A, Tabarki, B. “A Wide Clinical Phenotype Spectrum in Patients with ATP1A2 Mutations.” Journal of Childhood Neurology, Feb 2014.

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

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

Arnold DL, Silver K, Andermann F. “Evidence for Mitochondrial Dysfunction in Patients with Alternating Hemiplegia of Childhood.” Annals of Neurology 1993 Jun, Vol. 33 No. 6, Pages 604-607.

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, 2013 Jan 25, Vol. 288 No. 4, Pages 2734-43.

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

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

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, 2014, Vol. 12, pp. 115-120.

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, 2008 Nov., Vol. 50 No. 11, Pages 879-880.

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, Dec 2014, pp. 850-853.

Bourgeois, M,  Aicardi J., and Goutieres, F. “Alternating Hemiplegia of Childhood. “ Journal of Pediatrics. 1993, Vol. 122, Pages 673-679.

Brashear, A., Ozelius, L., Sweadner, K. “ATP1A3 Mutations: What is the Phenotype.” Neurology, February 11, 2014.

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

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.

Casaer P. “Flunarizine in Alternating Hemiplegia of Childhood: An International Study in 12 Children.” Neuropediatrics, 1987 Nov., Vol. 18 No. 4, Pages 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. Sept. 2012, Vol. 122 No.9, Pages 506-510.

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 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, 2008 Aug, Vol. 28 No. 8, Pages 887-91.

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. Oct 2006, Pages 302-304.

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.

DiRosa, G., Spano, M., Pustorino, G., and others. “Alternating Hemiplegia of Childhood Successfully Treated with Topiramate: 18 Months of Follow-up.” Neurology. 2006 Jan. 10. Vol. 66 No. 1, Pages 146-.

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