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Article

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

Sleep medicine - 1 Jan 2009

Combi Romina, Ferini-Strambi Luigi, Tenchini Maria Luisa

Abstract excerpt

OBJECTIVE: Forty-six nocturnal frontal lobe epilepsy (NFLE) patients (in which the involvement of the CHRNA4 and CHRNB2 genes coding for neuronal nicotinic acetylcholine receptor (nAChRs) subunits associated to the disease were previously excluded) were analyzed for the presence of mutations in the CHRNA2 gene coding for the alpha2 subunit of the same receptor, which has been recently associated with the disease....

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Source

Identifiers

PMID: 18226955
DOI: 10.1016/j.sleep.2007.11.010

Genes

CHRNA2
CHRNA4
CHRNB2

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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CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.PMID 18226955Read ↗

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

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

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

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 ↗

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.Semantic proximity Read ↗

Neuronal nicotinic receptors in human epilepsy.Semantic proximity Read ↗

Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.Semantic proximity Read ↗

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

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families.Semantic proximity Read ↗

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