Back Donate
Default image for pages

Balint B, Stephen CD, Udani V, Sankhla CS, Barad NH, Lang AE, Bhatia KP. “Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related Disease.” Mov Disord Clin Pract. 2019 Apr 4; 6(4):312-315. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31061839

Bizec CL, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S. “No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLCA21 and in Patients with AHC Negative for ATP1A3.” JIMD Rep. 12 (2014):115-120.

Boelman C, Lagman-Bartolome A, MacGregor D, McCabe J, Logan W, Minassian B. “Identical ATP1A3 Mutation Causes Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia Parkinsonism Phenotypes.” Pediatric Neurology (December 2014): 850-853.

Boileau S, Vuillaume I, Sablonniere B, Marignier S, Des Portes V, Vallee L, Auvin S. “Absence of T378N Mutation of ATP1A2 Gene in Five Patients with Alternating Hemiplegia of Childhood.” Developmental Medicine and Child Neurology 50, no.11 (November 2008) 879-880.

Brashear A, Ozelius L, Sweadner K. “ATP1A3 Mutations: What is the Phenotype?” Neurology (February 11, 2014).

Hiekkala ME, Vuola P, Artto V, Häppölä P, Häppölä E, Vepsäläinen S, Cuenca-León E, Lal D, Gormley P, Hämäläinen E, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Harno H, Havanka H, Keski-Säntti P, Färkkilä M, Palotie A, Wessman M, Kaunisto MA, Kallela M. “The Contribution of CACNA1A, ATP1A2 and SCN1A Mutations in Hemiplegic Migraine: A Clinical and Genetic Study in Finnish Migraine Families.” Cephalalgia. 2018 Oct; 38 (12); 1849-1863. Abstract: http://journals.sagepub.com/doi/abs/10.1177/0333102418761041?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed

Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N. “ATP1A3-related Disorders: An Update.” Eur J Paediatr Neurol. 2018 Mar; 22(2): 257-263. Abstract: https://www.sciencedirect.com/science/article/pii/S1090379817318949?via%3Dihub

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).

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 GeneFamily are Associated with Childhood-onset Schizophrenia.” Molecular Psychiatry. 2018 Jun 12. Abstract:
https://www.nature.com/articles/s41380-018-0103-8

Kors E, VanMolkot K, Haan J, Kheradmand K, Stroink H, Laan L, Gill D, Pascual J, van den Maagdenberg A, Frants R. “Alternating Hemiplegia of Childhood: No Mutations in the Second Familial Hemiplegic Migraine Gene ATP1A2.” Neuropediatrics 35, no. 5 (October 2004): 293-296.