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Article

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Neurology - 14 Apr 2015

Conti Valerio, Aracri Patrizia, Chiti Laura, Brusco Simone, Mari Francesco, Marini Carla, Albanese Maria, Marchi Angela, Liguori Claudio, Placidi Fabio, Romigi Andrea, Becchetti Andrea, Guerrini Renzo

Abstract excerpt

OBJECTIVE: We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE). Upon finding a novel mutation in CHRNA2 in a large family, we tested in vitro its functional effects. METHODS: We sequenced all the coding exons and their...

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Source

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Identifiers

PMID: 25770198
DOI: 10.1212/WNL.0000000000001471
PMCID: PMC4408286

Genes

CHRNA2
CHRNA4
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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Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.PMID 25770198Read ↗

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.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 ↗

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

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

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

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.Semantic proximity Read ↗

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

Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.Semantic proximity Read ↗

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