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 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).

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

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

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

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

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).

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

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

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

Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, Dear GL, Carboni MP, Idriss SF, 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). Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649289/pdf/JAH3-10-e019887.pdf