Genopathy
Gene-Disorder Association · Article
Gene
CHRNB2
Cholinergic Receptor Nicotinic Beta 2 Subunit
Disorder
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
First reported 1995
Supporting publications 5
Key publication · disorder A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.Nature genetics · 1995
Association Review

In brief

The association between CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit) and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 517
Symptoms 0
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
CHRNB2

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

517 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

5 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

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