De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

GABAA receptors are important regulators of neuronal inhibition. Butler et al. identify de novo variants in GABRA2 and GABRA5.

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Bibliographic Details
Main Authors: Butler, Kameryn M. (Author) , Moody, Olivia A. (Author) , Schuler, Elisabeth (Author) , Coryell, Jason (Author) , Alexander, John J. (Author) , Jenkins, Andrew (Author) , Escayg, Andrew (Author)
Format: Article (Journal)
Language:English
Published: June 28, 2018
In: Brain
Year: 2018, Volume: 141, Issue: 8, Pages: 2392-2405
ISSN:1460-2156
DOI:10.1093/brain/awy171
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/brain/awy171
Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/brain/article/141/8/2392/5046342
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Author Notes:Kameryn M. Butler, Olivia A. Moody, Elisabeth Schuler, Jason Coryell, John J. Alexander, Andrew Jenkins and Andrew Escayg
Description
Summary:GABAA receptors are important regulators of neuronal inhibition. Butler et al. identify de novo variants in GABRA2 and GABRA5.
Item Description:Gesehen am 24.03.2020
Physical Description:Online Resource
ISSN:1460-2156
DOI:10.1093/brain/awy171