ATP1A3 Mosaicism in Families with Alternating Hemiplegia of Childhood

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Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y. “ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients.” PLos ONE 9, no. 5 (May 2014).

Yang X, Zhang Y, Yuan D, Xu X, Li S, Wei L, Wu Y, Xiong H, Liu X, Bao X, Jiang Y, Wu X. “ATP1A3 Gene Mutations in Patients with Alternating Hemiplegia of Childhood.” Zhongua Er Ke Za Zhi (November 2015). (Chinese)

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Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Cadela R, Eiris J, Lopez-Laso E, Pineda M, Sans A, Velazquez R. “Alternating Hemiplegia of Childhood: ATP1A3 Gene Analysis in 16 Patients.” Med Clin (Barc) April 23, 2014. (in Spanish)

Ulate-Campos A, Fons C, Artuch R, Castejon E, Martorell L, Ozelius L, Pascual J, Campistol J. “Alternating Hemiplegia of Childhood with a De Novo Mutation in APT1A3 and Changes in SLC2A1 Responsive to Ketogenic Diet.” Pediatric Neurology (December 6, 2013).

Wei W, Zheng XF, Ruan DD, Gan YM, Zhang YP, Chen Y, Lin XF, Tang FQ, Luo JW, Li YF. Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family. Neurol Sci. 2022 Apr;43(4):2555-2563. Abstract: https://pubmed.ncbi.nlm.nih.gov/34783933/

Weigand KM, Messchaert M, Swarts HG, Russel FG, Koenderink JB. “Alternating Hemiplegia of Childhood Mutations Have a Differential Effect on Na(+).K(+)-ATPase Activity and Ouabain Binding.” Biochim Biophys Acta (July 2014).

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