Publikationen

Management of Alternating Hemiplegia of Childhood: A Review.
 Samanta D
 Pediatr Neurol. 2019 Nov 1. pii: S0887-8994(19)30900-2. doi: 10.1016/j.pediatrneurol.2019.10.003. [Epub ahead of print]

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities.

Tan AH, Ong TL, Ramli N, Tan LK, Lim JL, Azhan MA, Ahmad-Annuar A, Ibrahim KA, Abdul-Aziz Z, Ozelius LJ, Brashear A, Lim SY.
 J Mov Disord. 2019 May;12(2):132-134. doi: 10.14802/jmd.18063. Epub 2019 May 30.

Epilepsy in Alternating Hemiplegia of Childhood: Characteristics, Neuroimaging, and Response to Therapy (P4.6-069)


Julie Uchitel, Ashley Helseth, Lyndsey Prange, Melissa McLean, Ryan Ghusayni, Monisha Sachdev, Arsen Hunanyan, Mohamad Mikati
Neurology, April 09, 2019; 92 (15 Supplement), First published April 16, 2019,

Neuropsychological Assessment In Patients With Alternating Hemiplegia Of Childhood (AHC) (P4.6-031)

 

Cecilia Fernandes, Melanie Bonner, Lyndsey Prange, Melissa McLean, Monisha Sachdev, Julie Uchitel, Brian Smith, Richard D’Alli, Jennifer Ricano, Joan Jasien, Mohamad Mikati
Neurology, April 09, 2019; 92 (15 Supplement), First published April 16, 2019,

Insights into Alternating Hemiplegia of Childhood from EEG Monitoring during an Episode, and Successful Prophylaxis with Levetiracetam (P4.6-032)


Alexander Mirzoev, Tyler S. Vanderhoof, Jordan M. Stefko, Marvin E. Miller, Cassandra J. Milling
Neurology, April 09, 2019; 92 (15 Supplement), First published April 16, 2019,

Sleep Disorders and Polysomnographic Findings in Patients with Alternating Hemiplegia of Childhood (P3.6-025)


Linh Tran, Sujay Kansagra, Ryan Ghusayni, Bassil Kherallah, Talha Gunduz, Melissa Mclean, Lyndsey Prange, Richard Kravitz, Mohamad Mikati
Neurology, April 09, 2019; 92 (15 Supplement), First published April 16, 2019,

Autonomic Related Gastrointestinal Manifestations of Alternating Hemiplegia of Childhood (P3.6-063)


Milton Pratt, Lyndsey Prange, Melissa McLean, Mohamad Mikati
 Neurology, April 09, 2019; 92 (15 Supplement), First published April 16, 2019,

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.


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.
Clin Genet. 2019 Jul;96(1):43-52. doi: 10.1111/cge.13539. Epub 2019 Apr 3.

 

Alternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option.


Van Hillegondsberg LS, Michaelis IA.
 S Afr Med J. 2019 Feb 26;109(3):152-153. doi: 10.7196/SAMJ.2019.v109i3.13757.

Extracellular Na+ Interactions in the WT hNa+/K+ATPase Alpha 3 and Alternating Hemiplegia of Childhood


Cristina Moreno Vadillo, Miguel Holmgren
Biophysical Journal, Volume 116, ISSUE 3, SUPPLEMENT 1, 129a, February 15, 2019, DOI:https://doi.org/10.1016/j.bpj.2018.11.715

Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.


Sen K, Hicks MA, Huq AHM, Agarwal R.
 Neuropediatrics. 2019 Apr;50(2):122-125. doi: 10.1055/s-0038-1677514. Epub 2019 Jan

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.


Kansagra S, Ghusayni R, Kherallah B, Gunduz T, McLean M, Prange L, Kravitz RM, Mikati MA.
 J Clin Sleep Med. 2019 Jan 15;15(1):65-70. doi: 10.5664/jcsm.7572.

Alternating Hemiplegia of Childhood in Two Adult Patients with a Mild Syndrome.


Polanowska KE, Dzieżyc K, Rosewich H, Ohlenbusch A, Seniów JB.
 Cogn Behav Neurol. 2018 Dec;31(4):214-219. doi: 10.1097/WNN.0000000000000178.

Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.


Jasien JM, Bonner M, D'alli R, Prange L, Mclean M, Sachdev M, Uchitel J, Ricano J, Smith B, Mikati MA.
 Dev Med Child Neurol. 2019 May;61(5):547-554. doi: 10.1111/dmcn.14077. Epub 2018 Oct 26.

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

 

Schirinzi T, Graziola F, Nicita F, Travaglini L, Stregapede F, Valeriani M, Curatolo P, Bertini E, Vigevano F, Capuano A.

Cerebellum. 2018 Aug;17(4):489-493. doi: 10.1007/s12311-018-0920-y. 

Novel E815K knock-in mouse model of alternating hemiplegia of childhood.

 Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehart E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA.
 Neurobiol Dis. 2018 Jul 30. pii: S0969-9961(18)30350-4. doi: 10.1016/j.nbd.2018.07.028. [Epub ahead of print]

Mechanisms of increased hippocampal excitability in the Mashl+/- mouse model of Na+ /K+ -ATPase dysfunction.
 Hunanyan AS, Helseth AR, Abdelnour E, Kherallah B, Sachdev M, Chung L, Masoud M, Richardson J, Li Q, Nadler JV, Moore SD, Mikati MA.
 Epilepsia. 2018 Jul;59(7):1455-1468. doi: 10.1111/epi.14441. Epub 2018 Jun 11.

 

Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy.

 

Dhakar MB, Bamford NS.

Neurology. 2018 Jul 3;91(1):47-49. doi: 10.1212/WNL.0000000000005745. 

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.

 

Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr.

Neurobiol Dis. 2018 Jul;115:29-38. doi: 10.1016/j.nbd.2018.03.009. Epub 2018 Mar 19.

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.

 

Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George AL Jr.

Neurobiol Dis. 2018 Jul;115:29-38. doi: 10.1016/j.nbd.2018.03.009. Epub 2018 Mar 19.

Glucose Transporter Type 1 Deficiency Syndrome.

 

Authors: Wang D, Pascual JM, De Vivo D.

Editors In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. 

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

2002 Jul 30 [updated 2018 Mar 1]. 

ATP1A3-related disorders: An update.

 

Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N.

Eur J Paediatr Neurol. 2018 Mar;22(2):257-263. doi: 10.1016/j.ejpn.2017.12.009. Epub 2017 Dec 21.

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Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.

 

Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, Ishii A, Hirose S, Shiraishi H.

Brain Dev. 2018 Mar;40(3):226-228. doi: 10.1016/j.braindev.2017.11.007.

Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?

 

Sival DA, Vansenne F, Van der Hout AH, Tijssen MAJ, de Koning TJ.

Pediatr Neurol. 2018 Apr;81:57-58. doi: 10.1016/j.pediatrneurol.2017.12.009. Epub 2017 Dec 21.

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.

 

Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S.

Brain Dev.  2018 Mar;40(3):222-225. doi: 10.1016/j.braindev.2017.09.010. Epub 2017 Oct 21.

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

 

Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E.

Eur J Paediatr Neurol. 2018 Mar;22(2):264-271. doi: 10.1016/j.ejpn.2018.01.010. Epub 2018 Jan 31.

ATP1A3-Related Neurologic Disorders.

 

Authors: Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

Editors In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

2008 Feb 7  [updated 2018 Feb 22].  

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

 

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A.

Brain Dev.  2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1.

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Motor function domains in alternating hemiplegia of childhood.

 

Masoud M, Gordon K, Hall A, Jasien J, Lardinois K, Uchitel J, Mclean M, Prange L, Wuchich J, Mikati MA.

Dev Med Child Neurol. 2017 Aug;59(8):822-828. doi: 10.1111/dmcn.13443. Epub 2017 May 25.

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

 

Yano ST, Silver K, Young R, DeBrosse SD, Ebel RS, Swoboda KJ, Acsadi G.

Pediatr Neurol. 2017 Aug;73:101-105. doi: 10.1016/j.pediatrneurol.2017.04.022. Epub 2017 Apr 29.

Diagnosis and Treatment of Alternating Hemiplegia of Childhood.

 

Masoud M, Prange L, Wuchich J, Hunanyan A, Mikati MA.

Curr Treat Options Neurol. 2017 Feb;19(2):8. doi: 10.1007/s11940-017-0444-7.

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

 

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, Desguerre I, Cormier-Daire V, Munnich A, de Lonlay P, Reilly L, Besmond C, Bahi-Buisson N.

Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10.

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

 

Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T.

BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6.

Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.

 

Holm TH, Lykke-Hartmann K.

Front Physiol. 2016 Jun 14;7:209. doi: 10.3389/fphys.2016.00209. eCollection 2016.

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Effects of Vagal Nerve Stimulation in Alternating Hemiplegia of Childhood (I15.001)

 

Ashley Helseth, Lyndsey Prange, Sujay Kansagra, Carrie Muh, Mohamad Mikati

Neurology. April 05, 2016; 86 (16 Supplement); First published April 4, 2016

Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study.

 

Stern WM, Desikan M, Hoad D, Jaffer F, Strigaro G, Sander JW, Rothwell JC, Sisodiya SM.

PLoS One. 2016 Mar 21;11(3):e0151667. doi: 10.1371/journal.pone.0151667. eCollection 2016.

Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.

 

Kirshenbaum GS, Idris NF, Dachtler J, Roder JC, Clapcote SJ.

J Neurogenet. 2016 Mar;30(1):42-9. doi: 10.1080/01677063.2016.1182525.

Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.

 

Kirshenbaum GS, Dachtler J, Roder JC, Clapcote SJ.

Neurogenetics. 2016 Jan;17(1):57-63. doi: 10.1007/s10048-015-0461-1. Epub 2015 Oct 13.

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

 

Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H.

Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23.

Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.

 

Kirshenbaum GS, Dachtler J, Roder JC, Clapcote SJ.

Behav Neurosci. 2015 Dec;129(6):822-31. doi: 10.1037/bne0000097. Epub 2015 Oct 26.

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Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

 

Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F.

Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.

[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].

 

Yang X, Zhang Y, Yuan D, Xu X, Li S, Wei L, Wu Y, Xiong H, Liu X, Bao X, Jiang Y, Wu X.

Zhonghua Er Ke Za Zhi. 2015 Nov;53(11):835-9.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

 

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C5, 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.

Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

 

Termsarasab P, Yang AC, Frucht SJ.

Tremor Other Hyperkinet Mov (N Y). 2015 Sep 16;5:336. doi: 10.7916/D8MG7NS8. eCollection 2015.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

 

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.

Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.

[Neuropsychological deficits in alternating hemiplegia of childhood: a case study].

 

[Article in Spanish; Abstract available in Spanish from the publisher]

Muriel V, Garcia-Molina A, Aparicio-Lopez C, Ensenat A, Roig-Rovira T.

Rev Neurol. 2015 Jul 1;61(1):25-8.

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A functional correlate of severity in alternating hemiplegia of childhood.

 

Li M, Jazayeri D, Corry B, McSweeney KM, Heinzen EL, Goldstein DB, Petrou S. 

Rev Neurol. 2015 Jul 1;61(1):25-8.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

 

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi 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, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. 

PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015.

Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.

 

Holm R, Einholm AP, Andersen JP, Vilsen B. 

J Biol Chem. 2015 Apr 10;290(15):9801-11. doi: 10.1074/jbc.M114.625509. Epub 2015 Feb 24.

Impaired Cell Surface Expression of ATP1A3 Mutations Associated with Alternating Hemiplegia of Childhood.

 

Christine Simmons; Kevin Ess; Kathryn J Swoboda; Alfred George 

Biophysical Journal 108(2):311a · January 2015 DOI: 10.1016/j.bpj.2014.11.1689

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

 

Sweney MT, Newcomb TM, Swoboda KJ. 

Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

 

Weller CM, Leen WG, Neville BG, Duncan JS, de Vries B, Geilenkirchen MA, Haan J, Kamsteeg EJ, Ferrari MD, van den Maagdenberg AM, Willemsen MA, Scheffer H, Terwindt GM.

Cephalalgia. 2015 Jan;35(1):10-5. doi: 10.1177/0333102414532379. Epub 2014 May 13.

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

 

Vila-Pueyo M1, Pons R2, Raspall-Chaure M1, Marcé-Grau A1, Carreño O3, Sintas C3, Cormand B3, Pineda-Marfà M4, Macaya A5.

J Neurol Sci. 2014 Sep 15;344(1-2):37-42. doi: 10.1016/j.jns.2014.06.014. Epub 2014 Jun 17.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. (Article in Spanish)

 

Ulate-Campos A1, Fons C2, Campistol J2, Martorell L3, Cancho-Candela R4, Eiris J5, López-Laso E6, Pineda M7, Sans A8, Velázquez R9.

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24.

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

Weigand KM1, Messchaert M2, Swarts HG3, Russel FG4, Koenderink JB5.

Biochim Biophys Acta. 2014 Jul;1842(7):1010-6. doi: 10.1016/j.bbadis.2014.03.002. Epub 2014 Mar 12.

Application of magnetic resonance spectroscopy in patients with alternating hemiplegia of childhood: findings on metabolic dysfunctions.

Jiang W1, Ma L1, Du B2, Chi Z1, Zeng Q3, Shan P1.

Neuropediatrics. 2014 Jun;45(3):162-8. doi: 10.1055/s-0033-1363312. Epub 2013 Dec 19.

A novel ATP1A3 mutation with unique clinical presentation.

 

Rosewich H1, Baethmann M2, Ohlenbusch A3, Gärtner J4, Brockmann K5.

J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

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Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.

Oblak AL1, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, Epperson F, Cook JF, Stacy M, Murrell JR, Ozelius LJ, Brashear A, Ghetti B.

Acta Neuropathol. 2014 May 7. [Epub ahead of print]

Distinct neurological disorders with ATP1A3 mutations.

 

Heinzen EL1, Arzimanoglou A2, Brashear A3, Clapcote SJ4, Gurrieri F5, Goldstein DB6, Jóhannesson SH7, Mikati MA8, Neville B9, Nicole S10, Ozelius LJ11, Poulsen H12, Schyns T13, Sweadner KJ14, van den Maagdenberg A15, Vilsen B16; ATP1A3 Working Group.

Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0

Bening nocturnal alternating hemiplegia of childhood: a new case with unusual findings.

 

Mangano S1, Fontana A2, Spitaleri C2, Mangano GR3.

Brain Dev. 2014 May;36(5):408-10. doi: 10.1016/j.braindev.2013.06.004. Epub 2013 Jun 29.

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients.

 

Yang X1, Gao H2, Zhang J3, Xu X1, Liu X1, Wu X1, Wei L4, Zhang Y1.

PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

 

Weller CM1, Leen WG2, Neville BG3, Duncan JS4, Vries BD1, Geilenkirchen MA1, Haan J5, Kamsteeg EJ6, Ferrari MD7, Maagdenberg AM8, Willemsen MA9, Scheffer H6, Terwindt GM10. 

Cephalalgia. 2014 May 13. pii: 0333102414532379. [Epub ahead of print]

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A1, Fons C2, Artuch R3, Castejón E4, Martorell L5, Ozelius L6, Pascual J7, Campistol J2.

Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.

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Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients. (Article in Spanish)

Ulate-Campos A1, Fons C2, Campistol J2, Martorell L3, Cancho-Candela R4, Eiris J5, López-Laso E6, Pineda M7, Sans A8, Velázquez R9.

Med Clin (Barc). 2014 Apr 23. pii: S0025-7753(14)00193-6. doi: 10.1016/j.medcli.2014.01.036. [Epub ahead of print]

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Rosewich H1, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K.

Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12.

Alternating hemiplegia of childhood: New diagnostic options.

 

Gergont A1, Kaciński M2.

Neurol Neurochir Pol. 2014 March - April;48(2):130-135. doi: 10.1016/j.pjnns.2013.05.003. Epub 2014 Feb 15.

Genotype-phenotype correlations in alternating hemiplegia of childhood.

Sasaki M1, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S.

Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15.

Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

Roubergue A1, Philibert B, Gautier A, Kuster A, Markowicz K, Billette de Villemeur T, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D.

JIMD Rep. 2015;15:7-12. doi: 10.1007/8904_2013_292. Epub 2014 Feb 16.

ATP1A3 mutations: what is the phenotype?

Brashear A1, Ozelius LJ, Sweadner KJ.

Neurology. 2014 Feb 11;82(6):468-9. doi: 10.1212/WNL.0000000000000113. Epub 2014 Jan 15.

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Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.

Toustrup-Jensen MS1, Einholm AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B.

J Biol Chem. 2014 Feb 7;289(6):3186-97. doi: 10.1074/jbc.M113.543272. Epub 2013 Dec 19.

Attenuation of mania-like behavior in Na(+),K(+)-ATPase α3 mutant mice by prospective therapies for bipolar disorder: melatonin and exercise.

Kirshenbaum GS1, Burgess CR2, Déry N3, Fahnestock M4, Peever JH2, Roder JC5.

Neuroscience. 2014 Feb 28;260:195-204. doi: 10.1016/j.neuroscience.2013.12.011. Epub 2013 Dec 14.

Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood.

Roubergue A1, Philibert B, Gautier A, Kuster A, Markowicz K, de Villemeur TB, Vuillaumier-Barrot S, Nicole S, Roze E, Doummar D.

JIMD Rep. 2014 Feb 16. [Epub ahead of print]

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Demos MK1, van Karnebeek CD, Ross CJ, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJ, Friedman JM; FORGE Canada Consortium

Orphanet J Rare Dis. 2014 Jan 28;9:15. doi: 10.1186/1750-1172-9-15.

Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

Sasaki M1, Ishii A, Saito Y, Hirose S.

Mov Disord. 2014 Jan;29(1):153-4. doi: 10.1002/mds.25659. Epub 2013 Sep 30.

Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.

Hoei-Hansen CE1, Dali CÍ2, Lyngbye TJ3, Duno M2, Uldall P4.

Eur J Paediatr Neurol. 2014 Jan;18(1):50-4. doi: 10.1016/j.ejpn.2013.08.007. Epub 2013 Sep. 25.

Zurück nach oben?

Asystole in alternating hemiplegia with de novo ATP1A3 mutation.

Novy J1, McWilliams E2, Sisodiya SM3

Eur J Med Genet. 2014 Jan;57(1):37-9. doi: 10.1016/j.ejmg.2013.11.003. Epub 2013 Nov 28.

No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.

 

Bizec CL1, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S.

JIMD Rep. 2014;12:115-20. doi: 10.1007/8904_2013_253. Epub 2013 Sep 4.

Zebrafish as a novel model to assess Na+/K(+)-ATPase-related neurological disorders.

 

Doğanli C1, Oxvig C, Lykke-Hartmann K.

Neurosci Biobehav Rev. 2013 Dec;37(10 Pt 2):2774-87. doi: 10.1016/j.neubiorev.2013.09.013. Epub 2013 Oct 1.

Episodic movement disorders: from phenotype to genotype and back.

 

Brockmann K.

Curr Neurol Neurosci Rep. 2013 Oct;13(10):379. doi: 10.1007/s11910-013-0379-7.

Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood.

 

Save J1, Poncelin D, Auvin S.

Eur J Paediatr Neurol. 2013 Sep;17(5):515-21. doi: 10.1016/j.ejpn.2013.04.002. Epub 2013 May 11.

The multiple faces of the ATP1A3-related dystonic movement disorder.

 

Roubergue A1, Roze E, Vuillaumier-Barrot S, Fontenille MJ, Méneret A, Vidailhet M, Fontaine B, Doummar D, Philibert B, Riant F, Nicole S.

Mov Disord. 2013 Sep;28(10):1457-9. doi: 10.1002/mds.25396. Epub 2013 Mar 8.