Genopathy
Gene-Disorder Association · Article
Gene
CHRNA4
Cholinergic Receptor Nicotinic Alpha 4 Subunit
Disorder
Focal Epilepsy
First reported 1997
Supporting publications 3
Key publication · gene–disorder Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies.American journal of medical genetics · 1997
Key publication · disorder [Roentgenography of cerebral atrophy with focal epilepsy].Revue neurologique · 1950
Manually curated
Association Review

In brief

The association between CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) and Focal Epilepsy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
Compounds 0
Trials 0
Publications 3
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
CHRNA4

The gene

2 source summaries

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

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04
Focal Epilepsy

The disorder

6 database identifiers

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

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05
Literature

Reading

3 publications

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

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06
Provenance

References & sources

7 references

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

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