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Article

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Brain : a journal of neurology - 1 Jan 2003

Marini Carla, Harkin Louise A, Wallace Robyn H, Mulley John C, Scheffer Ingrid E, Berkovic Samuel F

Abstract excerpt

Although several genes for idiopathic epilepsies from families with simple Mendelian inheritance have been found, genes for the common idiopathic generalized epilepsies, where inheritance is complex, presently are elusive. We studied a large family with epilepsy where the two main phenotypes were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12477709
DOI: 10.1093/brain/awg018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12477709-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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