Genopathy
Gene-Disorder Association · Article
Gene
KCNQ2
Potassium Voltage-Gated Channel Subfamily Q Member 2
Disorder
Epilepsy
First reported 1998
Supporting publications 21
Key publication · gene–disorder A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.Nature genetics · 1998
Key publication · disorder [Differential diagnosis of genuine and so-called traumatic epilepsy].Archiv fur Psychiatrie und Nervenkrankheiten, vereinigt mit Zeitschrift fur die gesamte Neurologie und Psychiatrie · 1950
Manually curated
Association Review

In brief

The association between KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2) and Epilepsy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 11
Compounds 0
Trials 0
Publications 21
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
KCNQ2

The gene

2 source summaries

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

Request access
04
Epilepsy

The disorder

11 database identifiers

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

Request access
05
Mechanism overlap

Shared mechanisms

2 shared pathways

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
06
Literature

Reading

21 publications

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

Request access
07
Provenance

References & sources

16 references

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

Request access