Distinct Neurological Disorders with ATP1A3 Mutations

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.

Hoei-Hansen CE, Dali C, Lyngbye TJ, Duno M, Uldall P. “Alternating Hemiplegia of Childhood in Denmark: Clinical Manifestations and ATP1A3 Mutation Status.” European Journal of Paediatric Neurology (September 25, 2013).

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, et al. “Mosaicism in ATP1A3-Related Disorders: Not Just a Theoretical Risk.” Neurogenetics (October 10, 2016).

Ikeda K, et al. “Enhanced Inhibitory Neurotransmission in the Cerebellar Cortex of the Atp1a3-deficient Heterozygous Mice.” J Physiol. (May 13, 2013).

Aminkeng, F. “Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Clinical Genetics 83, no.1 (January 2013): 32-33.

Azarias, et al. “A Specific and Essential Role for NA.K-ATPase a 3 in Neurons Co-expressing a 1 a 3.” J Biol Chem. 288, no. 4 (January 25, 2013): 2734-43.

Bassi MT, Bresolin N, Tonelli A. “A Novel Mutation in the ATP1A2 Gene Causes Alternating Hemiplegia of Childhood.” Journal of Medical Genetics 41 (2004,): 621-628.