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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.

Brashear A, Cook JF, Hill DF, Amonsah A, Snively BM, Light L, Boggs N, Suerken CK, Stacy M, Ozelius L, Sweadner KJ, McCall WV. “Psychiatric Disorders in Rapid-Onset Dystonia Parkinsonism.” Neurology (September 11, 2012): 1168-1173.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA. “Missense Variants in ATP1A3 and FXYD Gene Family are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12. Abstract: https://www.nature.com/articles/s41380-018-0103-8

Holm TH, Isaksen TJ, Clerup S, Heuck A, Nissen P, Lykke-Hartmann K. “Cognitive Deficits Caused by a Disease-Mutation in the a3 Na(+)/K(+)-ATPase Isoform.” Scientific Reports (August 23, 2016).

Sugimoto H, Ikeda K, Kawakami K. “Atp1a3-deficient Heterozygous Mice Show Lower Rank in the Hierarchy and Altered Social Behavior.” Genes, Brain and Behavior. 2018 Jun; 17 (5): e12435. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/gbb.12435

Pavlidis E, Uldall P, Gøbel Madsen C, Nikanorova M, Fabricius M, Høgenhaven H, Pisani F, Møller RS, Gardella E, Rubboli G. “Alternating Hemiplegia of Childhood and a Pathogenic Variant of ATP1A3: a Case Report and Pathophysiological Considerations.” Epileptic Disorders (June 19, 2017).

Termsarasab P, Yang AC, Frucht SJ. “Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.” Tremor and Other Hyperkinetic Movements (September 16, 2015).

Prange L, Shashi V, Herman K, Schiffmann r, Abdelnour E, Jasien J, Kansagra S, McLean m, Walley N, Azar A, Heinzen E, Mikat M. “D-Demo, A Novel and Distinct Phenotype Caused by ATP1A3 Mutations.” Neurology 88, no.16, Supplement P4.157 (April 18, 2017).

Torres A, Brownstein C, Tembulkar S, Graber K, et al. “De Novo ATP1A3 and Compound Heterozygous NLRP3 Mutations in a Child with Autism Spectrum Disorder, Episodic Fatigue and Somnolence, and Muckle-Wells Syndrome.” MGM Reports 2018 Sep; 15: 23-29. Fulltext:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005789/pdf/main.pdf