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Article

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

Annals of neurology - 1 Jan 2014

Lemke Johannes R, Hendrickx Rik, Geider Kirsten, Laube Bodo, Schwake Michael, Harvey Robert J, James Victoria M, Pepler Alex, Steiner Isabelle, Hörtnagel Konstanze, Neidhardt John, Ruf Susanne, Wolff Markus, Bartholdi Deborah, Caraballo Roberto, Platzer Konrad, Suls Arvid, De Jonghe Peter, Biskup Saskia, Weckhuysen Sarah

Abstract excerpt

OBJECTIVE: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations. METHODS: Using a panel approach, we screened 357 patients comprising a vast spectrum of epileptic disorders for defects in genes known to contribute to epilepsy and/or intellectual disability (ID). After detection of mutations in a novel epilepsy gene, we investigated functional effects in...

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Identifiers

PMID: 24272827
DOI: 10.1002/ana.24073
PMCID: PMC4223934

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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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