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Article

Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.

Epilepsia - 1 Mar 2008

Díaz-Otero Fernando, Quesada Mar, Morales-Corraliza José, Martínez-Parra Carlos, Gómez-Garre Pilar, Serratosa José M

Abstract excerpt

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE; MIM 600513) has been associated with mutations in the genes coding for the alfa-4 (CHRNA4), beta-2 (CHRNB2), and alpha-2 (CHRNA2) subunits of the neuronal nicotinic acetylcholine receptor (nAChR) and for the corticotropin-releasing hormone (CRH). A four-generation ADNFLE family with six affected members was identified. All affected members presented the...

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Source

Identifiers

PMID: 17900292
DOI: 10.1111/j.1528-1167.2007.01328.x

Genes

CHRNB2
CHRNA4
CHRNA2
CRH

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.

Related research

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Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.PMID 17900292Read ↗

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

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

Further evidence of genetic heterogeneity in families with autosomal dominant 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 ↗

The nicotinic receptor beta 2 subunit is mutant in 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 ↗

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

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

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

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

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