Back Donate
Default image for pages

Younes TB, Benrhouma H, Klaa H, Rouissi A, Chaabouni M, Kraoua I, Youssef-Turki IB. “Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.” Neuropediatrics. 2018 Oct; 49(5): 339-341. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1667024

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carriho L, Fiori S, Lourenco CM, Sawyer S, Steinfeld R, Gartner J, Brockmann K. “The Expanding Clinical and Genetic Spectrum of ATP1A3-Related Disorders.” Neurology 18, no. 82 (Mar 18, 2014): 945-955.

Toustrup-Jensen MS, Einhold AP, Schack VR, Nielsen HN, Holm R, Sobrido MJ, Andersen JP, Clausen T, Vilsen B. “Relationship Between Intracellular N1+ Concentration and Reduced Na+ Affinity in Na+,K+ATPase Mutants Causing Neurological Disease.” J Biol Chem. 289, no. 6 (February 7, 2014): 3186-3197.

Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K. “Research Conference Summary from the 2014 International Task Force on ATP1A3-Related Disorders.” Neurology Genetics (April 3, 2017).

Rosewich H, Thiele H, Ohlenbusch A, et al. “Heterozygous De-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood: A Whole-Exome Sequencing Gene-Identification Study.” Lancet Neurology 11, no. 9 (September 2012): 764-73.

Larsen BR, Stoica A, MacAulay N. “Managing Brain Extracellular K(+) during Neuronal Activity: The Physiological Role of the Na(+)/K(+)-ATPase Subunit Isoforms.” Frontiers in Physiology (April 22, 2016).

Marzin P, Mignot C, Dorison N, Dufour L, Ville D, Kaminska A, Panagiotakaki E, Dienpendaele AS, Penniello MJ, Nougues MC, Keren B, Depienne C, Nava C, Milh M,
Villard L, Richelme C, Rivier C, Whalen S, Heron D, Lesca G, Doummar D. “Early-onset Encephalopathy with Paroxysmal Movement Disorders and Epileptic Seizures without Hemiplegic Attacks: About Three Children with Novel ATP1A3 Mutations.” Brain Development. 2018 Oct; 40(9): 768-774. Abstract: https://www.brainanddevelopment.com/article/S0387-7604(18)30214-6/fulltext

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/