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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

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

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.

De Vrieze J, van de Laar IMBH, de Rijk-van Andel JF, Kamsteeg EJ, Kotsopoulos IAW, de Man SA. Expanding Phenotype of ATP1A3 – Related Disorders: A Case Series. Child Neurol Open. 2021 Nov 3;8. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573619/pdf/10.1177_2329048X211048068.pdf

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.

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).