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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.

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

Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S. “A De Novo p.Arg756Cys Mutation in ATP1A3 Causes a Distinct Phenotype with Prolonged Weakness and Encephalopathy Triggered by Fever.” Brain Dev. 2018 Mar; 40(3): 222-225. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760417302644?via%3Dihub

Ng HWY, Ogbeta JA, Clapcote SJ. Genetically altered animal models for ATP1A3-related disorders. Dis Model Mech. 2021 Oct 1;14(10). Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8503543/

Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. “Childhood-onset ATP1A3-related Conditions: Report of Two New Cases of Phenotypic Spectrum.” Parkinsonism Related Disorders 30 (September 2016): 81-82.

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, et al. “Mosaicism in ATP1A3-Related Disorders: Not Just a Theoretical Risk.” Neurogenetic (October 10, 2016).