Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic-Reference-Cited by-同舟云学术

Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic

Published:2019-04 Issue:15 Volume:294 Page:6157-6171
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Absalom Nathan L.,Ahring Philip K.,Liao Vivian W.,Balle Thomas,Jiang Tian,Anderson Lyndsey L.,Arnold Jonathon C.,McGregor Iain S.,Bowen Michael T.,Chebib Mary

Funder

Department of Health | National Health and Medical Research Council

Lambert Initiative for Cannabinoid Therapeutics

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference47 articles.

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4. Deleterious rare variants reveal risk for loss of GABAA receptor function in patients with genetic epilepsy and in the general population;Hernandez;PLoS One,2016

5. Phenotypic spectrum of GABRA1: from generalized epilepsies to severe epileptic encephalopathies;Johannesen;Neurology,2016

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