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Article

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

American journal of human genetics - 1 Oct 1998

Phillips H A, Scheffer I E, Crossland K M, Bhatia K P, Fish D R, Marsden C D, Howell S J, Stephenson J B, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic S F, Mulley J C

Abstract excerpt

Autosomal dominant nocturnal frontal-lobe epilepsy (ADNFLE) is a recently identified partial epilepsy in which two different mutations have been described in the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA4). An additional seven families are presented in which ADNFLE is...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 15
Epilepsy, Frontal Lobe
Female
Genes, Dominant
Genetic Heterogeneity
Genetic Markers
Humans
Lod Score
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Periodicity

Receptors, Nicotinic

Source

Open in PubMed Open full text

Identifiers

PMID: 9758605
DOI: 10.1086/302047
PMCID: PMC1377480

Genes

CHRNA4
CHRNA3
CHRNA5
CHRNB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9758605-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.PMID 9758605Read ↗

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1Semantic proximity Read ↗

Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

The nicotinic receptor beta 2 subunit is mutant in 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 ↗

Two new putative susceptibility loci for ADNFLE.Semantic proximity Read ↗

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.Semantic proximity Read ↗

Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".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 ↗

Recent progress in the genetics of human epilepsies.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 ↗

Neuronal nicotinic receptors in human epilepsy.Semantic proximity Read ↗

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

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