ATP1A3-related Epilepsy: Report of Seven Cases and Literature-based Analysis of Treatment Response

Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, et al. “ATP1A3-related Epilepsy: Report of Seven Cases and Literature-based Analysis of Treatment Response.” J Clin Neurosci. 2020 Jan 17. Abstract: https://www.ncbi.nlm.nih.gov/pubmed/31959558

Holze N, Baalen AV, Stephani U, Helbig I, Muhle H. “Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.” Neuropediatrics. 2018 Oct; 49(5): 342-346. Abstract: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0038-1653978

Incorpora G, Pavone P, Ruggieri M, Cocuzza M, Mazzone L, Parano E, Privitera M. “Neonatal Onset of Hot Water Reflex Seizures in Monozygotic Twins Subsequently Manifesting Episodes of Alternating Hemiplegia.” Epilepsy Research 78, no. 2-3 (February 2008): 225-231.

Incecik F, Herguner OM. “Alternating Hemiplegia of Childhood in a Child Misdiagnosed as Intractable Epilepsy.” Journal of Neurosciences in Rural Practice Suppl 1 (December 2016): S130-S131.

Ishihara N, Inagaki H, Miyake M, Kawamura Y, Yoshikawa t, Kurahashi H. “A Case of Early Onset Life-threatening Epilepsy Associated with a Novel ATP1A3 Gene Variant.” Brain & Development. 2019 Mar; 41(3): 285-291. Abstract: https://www.brainanddevelopment.com/article/S0387-7604(18)30256-0/fulltext

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.sciencedirect.com/science/article/pii/S0387760418302146?via%3Dihub

Neupert D, Abbassi P, Prange L, Flamini R, Mikati MA. Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy. Epileptic Disord. 2022 Feb 1;24(1):183-190. Abstract: https://pubmed.ncbi.nlm.nih.gov/34789444/

Olson H, Poduri A, Pearl P. “Genetic Forms of Epilepsies and other Paroxysmal Disorders.” Semin Neurol. (July 2014): 266-279.

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. “ATP1A3-related Epileptic Encephalopathy Responding to Ketogenic Diet.” Brain Dev. 2018 Jan 26. Abstract: https://www.sciencedirect.com/science/article/pii/S0387760418300068?via%3Dihub

Shirasaka Y, Ito M, Okuno T, Mikawa H, Yamori Y. “Epileptic Seizures Difficult to Differentiate from Alternating Hemiplegia in Infants: A Case Report.” Brain Development 12, no.5 (1990): 521-524.