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

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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Bibliographic Details
Main Authors: Chiara Villa, Giulia Colombo, Simone Meneghini, Cecilia Gotti, Milena Moretti, Luigi Ferini-Strambi, Elisa Chisci, Roberto Giovannoni, Andrea Becchetti, Romina Combi
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Molecular Neuroscience
Subjects:
ADNFLE
ADSHE
genetics
frontal lobe epilepsy
nicotinic receptor
patch-clamp
Online Access:https://www.frontiersin.org/article/10.3389/fnmol.2019.00017/full

Internet

https://www.frontiersin.org/article/10.3389/fnmol.2019.00017/full

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