Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

BACKGROUND: Variants in SCN8A are associated with a spectrum of epilepsies and neurodevelopmental disorders. Ataxia as a predominant symptom of SCN8A variation has not been well studied. We set out to investigate disease mechanisms and genotype–phenotype correlations of SCN8A-related ataxia. METHODS...

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Detalles Bibliográficos
Autores principales: Lyu, Hang, Boßelmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar, Juan Dario, Aguilera-Albesa, Sergio, Garcia-Navas Núñez, Deyanira, Linnankivi, Tarja, Gaily, Eija, van Ruiten, Henriette J.A., Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schöls, Ludger, Lerche, Holger, Møller, Rikke S., Liu, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10628346/
http://dx.doi.org/10.1016/j.ebiom.2023.104855

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