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Article

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.

Archives of neurology - 1 Jul 2002

Kananura Colette, Haug Karsten, Sander Thomas, Runge Uwe, Gu Wenli, Hallmann Kerstin, Rebstock Johannes, Heils Armin, Steinlein Ortrud K

Abstract excerpt

CONTEXT: Missense mutations in the GABRG2 gene, which encodes the gamma 2 subunit of central nervous gamma-aminobutyric acid (GABA)(A) receptors, have recently been described in 2 families with idiopathic epilepsy. In one of these families, the affected individuals predominantly exhibited childhood absence epilepsy and febrile convulsions. OBJECTIVE: To assess the role of GABRG2 in the genetic predisposition to...

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Topics

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Share to Adolescent
Share to Epilepsy, Absence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Polymorphism, Genetic

Share to Receptors, GABA-A

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Seizures, Febrile

Source

Identifiers

PMID: 12117362
DOI: 10.1001/archneur.59.7.1137

Genes

GABRG2

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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A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.PMID 12117362Read ↗

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The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.Semantic proximity Read ↗

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