Mutation in the Glutamate Transporter EAAT1 Causes Episodic Ataxia, Hemiplegia, and Seizures

Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. “Mutation in the Glutamate Transporter EAAT1 Causes Episodic Ataxia, Hemiplegia, and Seizures.” Neurology.65, no.4 (August 23, 2005): 529-534.

Jian W, Ma L, Du B, Chi Z, Zeng Q, Shan P. “Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions.” Neuropediatrics 45, no. 3 (June 2014):162-168.

Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S. “Alternating Hemiplegia of Childhood: A Syndrome Inherited with an Autosomal Dominant Trait.” Developmental Medicine and Child Neurology 45. no.12 (December 2003): 833-836.

Brashear A, Ozelius L, Sweadner K. “ATP1A3 Mutations.” Neurology (February 11, 2014).

Kirshenbaum GS, Dawson N, Mullins JG, Johnston TH, Drinkhill MJ, Edwards IJ, Fox SH, Pratt JA, Brotchie JM, Roder JC, Clapcote SJ. “Alternating Hemiplegia of Childhood-Related Neural and Behavioural Phenotypes in Na+K+-ATPase a3 Missense Mutant Mice.” PLos ONE 8, no. 3 (2013).

Brockmann, K. “Episodic Movement Disorders: From Phenotype to Genotype and Back.” Curr Neurol Neurosci Rep. (October 13, 2013).

Le Bizec C, Nicole S, Panagiotakaki E, Seta N, and Vuillaumier-Barrot S. “No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and Patients with AHC Negative for ATP1A3.” JIMD Reports (September 4, 2013).

Cordani R, Pisciotta L, Mancardi MM, Stagnaro M, Prato G, Giacomini T, Morana G, Walsh P, Ghia T, Nobili L, De Grandis E. Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review. Neuropediatrics. 2022 Feb;53(1):69-74. Fulltext: https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0041-1739132

Li M, Jazayeri D, Corry B, Melodi McSweeney K, Heinzen E, Goldstein D, Petrou S. “A Functional Correlate of Severity in Alternating Hemiplegia of Childhood.” Neurobiology of Disease (February 12, 2015).

Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K. “Functional Studies and Proteomics in Platelets and Fibroblasts Reveal a Lysosomal Defect with Increased Cathepsin-dependent Apoptosis in ATP1A3 Defective Alternating Hemiplegia of Childhood.” Journal of Proteomics (May 13, 2013).