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Article

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Human molecular genetics - 1 Jul 2004

Dibbens Leanne M, Feng Hua-Jun, Richards Michaella C, Harkin Louise A, Hodgson Bree L, Scott Darren, Jenkins Misty, Petrou Steven, Sutherland Grant R, Scheffer Ingrid E, Berkovic Samuel F, Macdonald Robert L, Mulley John C

Abstract excerpt

A major challenge in understanding complex idiopathic generalized epilepsies has been the characterization of their underlying molecular genetic basis. Here, we report that genetic variation within the GABRD gene, which encodes the GABAA receptor delta subunit, affects GABA current amplitude consistent with a model of polygenic susceptibility to epilepsy in humans. We have found a GABRD Glu177Ala variant which is...

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Share to Amino Acid Substitution
Share to Epilepsy, Generalized

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, GABA-A

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Share to Synaptic Membranes

Source

Identifiers

PMID: 15115768
DOI: 10.1093/hmg/ddh146

Genes

GABRD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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