Alternating Hemiplegia of Childhood: ATP1A3 Gene Analysis in 16 Patients

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).

Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y. “ATP1A3 Mosaicism in Families with Alternating Hemiplegia of Childhood.” Clin Genet. 2019 Jul; 96(1): 43-52. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30891744

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)

Yano S, Silver K, Young R, DeBrosse S, Ebel R, Swoboda K, Acsadi G. “Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.” Pediatric Neurology 73 (August 2017): 101-105.

Shrivastava A, Redeker V, Fritz N, Pieri L, Almeida LG, Spolidoro M, Liebmann T, Bousset L, Renner M, Léna C, Aperia A, Melki R, Triller A. “α-synuclein Assemblies Sequester Neuronal α3-Na+/K+-ATPase and Impair Na+ Gradient.” The EMBO Journal (August 31, 2015).

Simmons C, Swoboda K, Ess K, George A. “Impaired Cell Surface Expression of ATP1A3 Mutations Associated with Alternating Hemiplegia of Childhood.” Biophysical Journal 108, no. 2 (January 2015).