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Article

The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.

Nature neuroscience - 1 Jul 2015

Kang Jing-Qiong, Shen Wangzhen, Zhou Chengwen, Xu Dong, Macdonald Robert L

Abstract excerpt

Genetic epilepsy and neurodegenerative diseases are two common neurological disorders that are conventionally viewed as being unrelated. A subset of patients with severe genetic epilepsies who have impaired development and often go on to die of their disease respond poorly to anticonvulsant drug therapy, suggesting a need for new therapeutic targets. Previously, we reported that multiple GABAA receptor epilepsy...

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Identifiers

PMID: 26005849
DOI: 10.1038/nn.4024
PMCID: PMC4482801

Genes

GABRG2

Variants

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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The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.PMID 26005849Read ↗

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