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Article

A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.

Epilepsy research - 1 Feb 2009

Chen Yan, Wu Liwen, Fang Yue, He Zhiyi, Peng Bingwei, Shen Yan, Xu Qi

Abstract excerpt

SUMMARY: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be partly caused by mutations in the transmembrane domain (TM) 1-3 of the genes of the neuronal nicotinic acetylcholine receptor (nAChR) alpha4-subunit (CHRNA4), beta2-subunit (CHRNB2) and alpha2-subunit (CHRNA2). The more common cases of sporadic nocturnal frontal lobe epilepsy (NFLE) that are not differentiated from ADNFLE by...

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Source

Identifiers

PMID: 19058950
DOI: 10.1016/j.eplepsyres.2008.10.009

Genes

CHRNA4
CHRNA2
CHRNB2

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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A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.PMID 19058950Read ↗

CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.Semantic proximity Read ↗

A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely.Semantic proximity Read ↗

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.Semantic proximity Read ↗

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.Semantic proximity Read ↗

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The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.Semantic proximity Read ↗

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.Semantic proximity Read ↗

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