Mosaicism in ATP1A3-Related Disorders: Not Just a Theoretical Risk

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).

Isaksen TJ, Kros L, Vedovato N, Holm T, Vitenzon A, Gadsby D, Khodakhah K, Lykke-Hartmann K. “Hypothermia-induced Dystonia and Abnormal Cerebellar Activity in a Mouse Model with a Single Disease-mutation in the Sodium Pump.” PLoS Genetics (May 4, 2017).

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium.; French AHC Consortium.; International AHC Consortium. “Clinical Profile of Patients with ATP1A3 Mutations in Alternating Hemiplegia of Childhood: A Study of 155 Patients.” Orphanet Journal of Rare Diseases (September 26, 2015).

Giacanelli M, Petrucci A, Lispi L, Luna R, Neri G, Gurrieri F, Angelini C. “ATP1A3 Mutant Patient with Alternating Hemiplegia of Childhood and Brain Spectroscopic Abnormalities.” Journal of the Neurological Science. 2017 Aug 15; 379: 36-38.

Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K. “Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.” Brain Development. 2018 Aug; 40(7): 576-581. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418300895?via%3Dihub