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Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy

Pathogenic variants in the voltage-gated sodium channel gene (SCN1A) are amongst the most common genetic causes of childhood epilepsies. There is considerable heterogeneity in both the types of causative variants and associated phenotypes; a recent expansion of the phenotypic spectrum of SCN1A assoc...

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Detalles Bibliográficos
Autores principales: Gorman, Kathleen M, Peters, Colin H, Lynch, Bryan, Jones, Laura, Bassett, Dani S, King, Mary D, Ruben, Peter C, Rosch, Richard E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568850/
https://www.ncbi.nlm.nih.gov/pubmed/34755109
http://dx.doi.org/10.1093/braincomms/fcab235

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