Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants

A wide phenotypic spectrum of neurological diseases is associated with KCNA1 (Kv1.1) variants. To investigate the molecular basis of such a heterogeneous clinical presentation and identify the possible correlation with in vitro phenotypes, we compared the functional consequences of three heterozygou...

Descripción completa

Detalles Bibliográficos
Autores principales: Miceli, Francesco, Guerrini, Renzo, Nappi, Mario, Soldovieri, Maria Virginia, Cellini, Elena, Gurnett, Christina A., Parmeggiani, Lucio, Mei, Davide, Taglialatela, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299230/
https://www.ncbi.nlm.nih.gov/pubmed/34778950
http://dx.doi.org/10.1111/epi.17118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299230/
https://www.ncbi.nlm.nih.gov/pubmed/34778950
http://dx.doi.org/10.1111/epi.17118

Ejemplares similares