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Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia

Episodic ataxia is an umbrella term for a group of nervous system disorders that adversely and episodically affect movement. Episodes are recurrent, characterized by loss of balance and coordination and can be accompanied by other symptoms ranging from nausea to hemiplegia. Episodic Ataxia Type 1 (E...

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Detalles Bibliográficos
Autores principales:	Manville, Rían W., Sidlow, Richard, Abbott, Geoffrey W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9397541/ https://www.ncbi.nlm.nih.gov/pubmed/36016548 http://dx.doi.org/10.3389/fneur.2022.975849

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