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Article

Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy.

Epilepsy research - 1 Apr 2007

De Marco Elvira V, Gambardella Antonio, Annesi Ferdinanda, Labate Angelo, Carrideo Sara, Forabosco Paola, Civitelli Donatella, Candiano Innocenza C Cirò, Tarantino Patrizia, Annesi Grazia, Quattrone Aldo

Abstract excerpt

PURPOSE: Mutations in the genes encoding the alfa(2), alfa(4) and beta(2) subunits of the neuronal nicotinic acetylcholine receptor (nAChR) play a causative role in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Moreover, variations in the promoter of the corticotropic-releasing hormone gene (CRH) were also associated with ADNFLE. Here, we investigated whether nine brain-expressed genes (CHRNA2,...

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Topics

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Share to Corticotropin-Releasing Hormone
Share to Epilepsy, Frontal Lobe

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Linkage

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Share to Receptors, Nicotinic

Share to Sleep Wake Disorders

Source

Identifiers

PMID: 17324557
DOI: 10.1016/j.eplepsyres.2006.12.006

Genes

CRH
CHRNA4
CHRNB2
CHRNA2
CHRNA3
CHRNA5
CHRNA6
CHRNA7
CHRNB3
CHRNB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy.PMID 17324557Read ↗

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