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Younes TB, Benrhouma H, Klaa H, Rouissi A, Chaabouni M, Kraoua I, Youssef-Turki IB. “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. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1667024

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.

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. 289, no. 6 (February 7, 2014): 3186-3197.

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.

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. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30862413

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. Abstract: https://link.springer.com/article/10.1007%2Fs12311-018-0920-y

Shrivastava A, Triller A, Melki R. “Cell Biology and Dynamics of Neuronal Na+/K+-ATPase in Health and Diseases.” Neuropharmacology. 2018 Dec 11. Abstract: 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. Abstract: https://www.sciencedirect.com/science/article/pii/S0969996118300779?via%3Dihub