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Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, Dear GL, Carboni MP, Idriss SF, Mikati MA, Landstrom AP. ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia. J Am Heart Assoc. 2021 Sep 7;10(17). Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8649289/pdf/JAH3-10-e019887.pdf

Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, Ando N, Matsumoto N, Saitoh S. “A De Novo p.Arg756Cys Mutation in ATP1A3 Causes a Distinct Phenotype with Prolonged Weakness and Encephalopathy Triggered by Fever.” Brain Dev. 2018 Mar; 40(3): 222-225. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760417302644?via%3Dihub

Ng HWY, Ogbeta JA, Clapcote SJ. Genetically altered animal models for ATP1A3-related disorders. Dis Model Mech. 2021 Oct 1;14(10). Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8503543/

Nicita F, Travaglini L, Sabatini S, Garavaglia B, Panteghini C, Valeriani M, Bertini E, Nardocci N, Vigevano F, Capuano A. “Childhood-onset ATP1A3-related Conditions: Report of Two New Cases of Phenotypic Spectrum.” Parkinsonism Related Disorders 30 (September 2016): 81-82.

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.

Ikeda K, Onimaru H, Kawakami K. “Knockout of Sodium Pump α3 Subunit Gene (Atp1a3-/-) Results in Perinatal Seizure and Defective Respiratory Rhythm Generation.” Brain Research 1666 (July 1, 2017): 27-37.

Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. “Novel Mutations in ATP1A3 Associated with Catastrophic Early Life Epilepsy, Episodic Prolonged Apnea, and Postnatal Microcephaly.” Epilepsia 56, no. 3 (March 2015).