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Article

Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.

FEBS letters - 19 May 2009

Hoda Jean-Charles, Wanischeck Mario, Bertrand Daniel, Steinlein Ortrud K

Abstract excerpt

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2. Recently, a point mutation (alpha2-I279N) associated with sleep-related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that alpha2-I279N can be co-expressed with the major structural subunit CHRNB2....

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Source

Identifiers

PMID: 19383498
DOI: 10.1016/j.febslet.2009.04.024

Genes

CHRNA2
CHRNB2
CHRNA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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