Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

Abstract Background Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y‐aminobutyric acid (GABA) is a major inhibitory neurotransmitter in the mammalian central nervous...

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Main Authors: Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
exome sequencing
GABA receptor type A subunit epsilon
GABRE
genetic epilepsy
novel sequence variants
Online Access:https://doi.org/10.1002/mgg3.1388

Internet

https://doi.org/10.1002/mgg3.1388

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