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Article

Multiple molecular mechanisms for a single GABAA mutation in epilepsy.

Neurology - 12 Mar 2013

Reid Christopher A, Kim Taehwan, Phillips A Marie, Low Jun, Berkovic Samuel F, Luscher Bernhard, Petrou Steven

Abstract excerpt

OBJECTIVE: To understand the molecular basis and differential penetrance of febrile seizures and absence seizures in patients with the γ2(R43Q) GABA receptor mutation. METHODS: Spike-and-wave discharges and thermal seizure susceptibility were measured in heterozygous GABA γ2 knock-out and GABA γ2(R43Q) knock-in mice models crossed to different mouse strains. RESULTS: By comparing the GABA γ2 knock-out with the...

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Identifiers

PMID: 23408872
DOI: 10.1212/WNL.0b013e3182872867
PMCID: PMC3653202

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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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