Relapsing Encephalopathy with Cerebellar Ataxia are Caused by Variants Involving p.Arg756 in ATP1A3

Sabouraud P, Riquet A, Spitz MA, Deiva K, Nevsimalova S, Mignot C, Lesca G, Bednarek N, Doummar D, Pietrement C, Laugel V. “Relapsing Encephalopathy with Cerebellar Ataxia are Caused by Variants Involving p.Arg756 in ATP1A3.” Eur J Paediatr Neurol. 2019 May; 23(3): 448-455. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/30862413

Sasaki M, Sakuragawa N, Osawa M. “Long-term Effect of Flunarizine on Patients with Alternating Hemiplegia of Childhood in Japan.” Brain & Development 23, no 5 (August 2001): 303-30.

Schirinzi T, Graziola F, Nicita F, Travaglini L, Stregapede F, Valeriani M, Curatolo P, Bertini E, Vigevano F, Capuano A. “Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.” Cerebellum; 2018 Aug; 17(4): 489-493. Abstract: https://link.springer.com/article/10.1007%2Fs12311-018-0920-y

Shrivastava A, Triller A, Melki R. “Cell Biology and Dynamics of Neuronal Na+/K+-ATPase in Health and Diseases.” Neuropharmacology. 2018 Dec 11. Abstract: https://www.sciencedirect.com/science/article/pii/S0028390818309079?via%3Dihub

Simmons CQ, Thompson CH, Cawthon BE, Westlake G, Swoboda KJ, Kiskinis E, Ess KC, George Al Jr. “Direct Evidence of Impaired Neuronal Na/K-ATPase Pump Function in Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 July; 115: 29-38. Abstract: https://www.sciencedirect.com/science/article/pii/S0969996118300779?via%3Dihub

Sival DA, Vansenne F, Van der Hout AH, Tijssen MAJ, de Koning TJ. “Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?” Pediatric Neurology. 2018 Apr; 81: 57-58. Fulltext: https://www.pedneur.com/article/S0887-8994(17)31132-3/pdf

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

Oblak AL, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, Epperson F, Cook JF, Stacy M, Murrell JR, Ozelous LJ, Brashear A, Ghetti B. “Rapid-Onset Dystonia-Parkinsonism Associated with the I758S Mutation of the ATP1A3 Gene: A Neuropathologic and Neuroanatomical Study of Four Siblings.” Acta Neuropatholgy (May 7, 2014).

Hunanyan AS, Helseth AR, Abdelnour E, Kherallah B, Sachdev M, Chung L, Masoud M, Richardson J, Li Q, Nadler JV, Moore SD, Mikati MA. “Mechanisms of Increased
Hippocampal Excitability in the Mashl+/- mouse Model of Na+ /K+ -ATPase Dysfunction.” Epilepsia. 2018 Jul; 59(7): 1455-1468. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/epi.14441

Ozelius L. “Clinical Spectrum of Disease Associated with ATP1A3 Mutations.” Lancet Neurology 11, no. 9 (September 2012): 741-743.