Knockout of Sodium Pump α3 Subunit Gene (Atp1a3-/-) Results in Perinatal Seizure and Defective Respiratory Rhythm Generation

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).

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

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

Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA,
Zeev BB. “CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.” Journal of Child Neurology (April 20, 2015).

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Johannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group. “Distinct Neurological Disorders with ATP1A3 Mutations.” Lancet Neurol. 13 no. 5 (May 2014): 503-14.

Heinzen E, Swoboda K, Hitomi Y, et al. “De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood.” Nature Genetics 44, no.9 (September 2012): 1030-1034.

Helseth AR, Hunanyan AS, Adil S, Linabarger M, Sachdev M, Abdelnour E, Arehard E, Szabo M, Richardson J, Wetsel WC, Hochgeschwender U, Mikati MA. “Novel E815K Knock-in Mouse Model of Alternating Hemiplegia of Childhood.” Neurobiology of Disease. 2018 Nov; 119: 100-112. Abstract:
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