ATP1A3 Mutant Patient with Alternating Hemiplegia of Childhood and Brain Spectroscopic Abnormalities

Giacanelli M, Petrucci A, Lispi L, Luna R, Neri G, Gurrieri F, Angelini C. “ATP1A3 Mutant Patient with Alternating Hemiplegia of Childhood and Brain Spectroscopic Abnormalities.” Journal of the Neurological Science. 2017 Aug 15; 379: 36-38.

Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K. “Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.” Brain Development. 2018 Aug; 40(7): 576-581. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418300895?via%3Dihub

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA,
Zeev BB. “CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.” Journal of Child Neurology (April 20, 2015).

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Johannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group. “Distinct Neurological Disorders with ATP1A3 Mutations.” Lancet Neurol. 13 no. 5 (May 2014): 503-14.

Heinzen E, Swoboda K, Hitomi Y, et al. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Nature Genetics 44, no.9 (September 2012): 1030-1034.

Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehard E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA. “Novel E815K Knock-in Mouse Model of Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 Nov; 119: 100-112. Abstract:
https://www.sciencedirect.com/science/article/pii/S0969996118303504?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.

Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F. “Relapsing Encephalopathy with Cerebellar Ataxia Related to an ATP1A3 Mutation.” Development Medicine and Child Neurology (September 23, 2015).