“Impaired Cell Surface Expression of ATP1A3 Mutations Associated with Alternating Hemiplegia of Childhood

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).

Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E. “ATP1A3 Spectrum Disorders: A Video-Documented History of 7 Genetically Confirmed Early Onset Cases.” Eur J Paediatr Neurol, 2018 Mar; 22(2): 264-271. Abstract: https://www.sciencedirect.com/science/article/pii/S1090379817316975?via%3Dihub

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).

Jaffer F, Fawcett K, Sims D, Heger A, Houlden H, Hanna M, Kingston H, Sisodiya S. “Familial Childhood-onset Progressive Cerebellar Syndrome Associated with ATP1A3 Mutation.” Neurology Genetics 3, no.3 (April 2017): e145-.

Junghans C, Vukojević V, Tavraz NN, Maksimov EG, Zuschratter W, Schmitt FJ, Friedrich T. “Disruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na+,K+-ATPase Membrane Diffusion.” Biophys J. 2017 Nov 21; 113(10): 2249-2260.

Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S,
Nishiyama K, Sanefuji M, Ishizaki, Y Torisu H, Saitsu H, Matsumoto N, Hara T. “De Novo p.Arg756Cys Mutation of ATP1A3 Causes an Atypical Form of Alternating Hemiplegia of Childhood with Prolonged Paralysis and Choreoathetosis.” BMC Neurology 16 (September 15, 2016): 174-.

Kinoshita PF, Leite JA, Orellana AM, Vasconcelos AR, Quintas LE, Kawamoto EM, Scavone C. “The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.” Frontiers in Physiology (June 2, 2016).

Kostopoulou E, Avgeri A, Apostolou MI, Tzifas S, Dimitriou G. “A novel presentation of an ATP1A3 gene mutation – case report and literature review.” Eur Rev Med Pharmacol Sci. 2022 Feb;26(4):1108-1113. https://www.europeanreview.org/article/28100