Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations

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

Shrivastava A, Redeker V, Fritz N, Pieri L, Almeida LG, Spolidoro M, Liebmann T, Bousset L, Renner M, Léna C, Aperia A, Melki R, Triller A. “α-synuclein Assemblies Sequester Neuronal α3-Na+/K+-ATPase and Impair Na+ Gradient.” The EMBO Journal (August 31, 2015).

Simmons C, Swoboda K, Ess K, George A. “Impaired Cell Surface Expression of ATP1A3 Mutations Associated with Alternating Hemiplegia of Childhood.” Biophysical Journal 108, no. 2 (January 2015).

Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, Prato G, Veneselli E, De Grandis E. “ATP1A3 Spectrum Disorders: A Video-Documented History of 7 Genetically Confirmed Early Onset Cases.” Eur J Paediatr Neurol, 2018 Mar; 22(2): 264-271. Abstract: https://www.sciencedirect.com/science/article/pii/S1090379817316975?via%3Dihub

Sugimoto H, Ikeda K, Kawakami K. “Atp1a3-deficient Heterozygous Mice Show Lower Rank in the Hierarchy and Altered Social Behavior.” Genes, Brain and Behavior. 2018 Jun; 17 (5): e12435. Abstract: https://onlinelibrary.wiley.com/doi/abs/10.1111/gbb.12435

Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, Ishii A, Hirose S, Shiraishi H. “Long-term Follow up of an Adult with Alternating Hemiplegia of Childhood and a p.Gly755Ser Mutation in the ATP1A3 Gene.” Brain Dev. 2018 Mar; 40(3): 226-228. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760417302954?via%3Dihub

Jaffer F, Fawcett K, Sims D, Heger A, Houlden H, Hanna M, Kingston H, Sisodiya S. “Familial Childhood-onset Progressive Cerebellar Syndrome Associated with ATP1A3 Mutation.” Neurology Genetics 3, no.3 (April 2017): e145-.