CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation

Mutations in genes coding for subunits of the neuronal nicotinic acetylcholine receptor (nAChR) have been involved in familial sleep-related hypermotor epilepsy (also named autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE). Most of these mutations reside in CHRNA4 and CHRNB2 genes, coding...

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Detalles Bibliográficos
Autores principales: Villa, Chiara, Colombo, Giulia, Meneghini, Simone, Gotti, Cecilia, Moretti, Milena, Ferini-Strambi, Luigi, Chisci, Elisa, Giovannoni, Roberto, Becchetti, Andrea, Combi, Romina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379349/
https://www.ncbi.nlm.nih.gov/pubmed/30809122
http://dx.doi.org/10.3389/fnmol.2019.00017

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