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Article

Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 13 Oct 2010

Kang Jing-Qiong, Shen Wangzhen, Lee Melissa, Gallagher Martin J, Macdonald Robert L

Abstract excerpt

The GABA(A) receptor γ2 subunit nonsense mutation Q351X has been associated with the genetic epilepsy syndrome generalized epilepsy with febrile seizures plus, which includes a spectrum of seizures types from febrile seizures to Dravet syndrome. Although most genetic epilepsy syndromes are mild and remit with age, Dravet syndrome has a more severe clinical course with refractory seizures associated with...

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Identifiers

PMID: 20943930
DOI: 10.1523/JNEUROSCI.2320-10.2010
PMCID: PMC2976503

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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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