Back Donate
Default image for pages

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).

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).

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

Rosewich H. Baethmann M, Ohlenbush A, Gartner J, Brockmann K. “A Novel ATP1A3 Mutation with Unique Clinical Presentation.” J Neurol Sci. 341 (June 15, 2014).

Younes TB, Benrhouma H, Klaa H, Rouissi A, Chaabouni M, Kraoua I, Youssef-Turki IB. “Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.” Neuropediatrics. 2018 Oct; 49(5): 339-341. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1667024