Gene Information

KCNQ2

potassium voltage-gated channel subfamily Q member 2 [Source:HGNC Symbol;Acc:HGNC:6296]

protein_codingChromosome 20ENSG00000075043

Overview

KCNQ2 variants are associated with 6 diseases including developmental and epileptic encephalopathy, 7 and benign familial infantile epilepsy and 4 others, with 20 documented clinical phenotypes.

Associated Diseases

The KCNQ2 gene is associated with 6 medical conditions, including:

developmental and epileptic encephalopathy, 7

MONDO:0013387

benign familial infantile epilepsy

MONDO:0017615

benign neonatal seizures

MONDO:0016027

autosomal dominant non-syndromic intellectual disability

MONDO:0015802

seizures, benign familial infantile, 3

MONDO:0011904

malignant migrating partial seizures of infancy

MONDO:0017385

Clinical Phenotypes

Research has identified 20 phenotypic features associated with KCNQ2 variants:

Bilateral tonic-clonic seizure

HP:0002069

Epileptic encephalopathy

HP:0200134

Autosomal dominant inheritance

HP:0000006

EEG with burst suppression

HP:0010851

Global developmental delay

HP:0001263

Global developmental delay

HP:0001263

Seizure

HP:0001250

Neonatal onset

HP:0003623

Focal clonic seizure

HP:0002266

Hypoplasia of the corpus callosum

HP:0002079

Autosomal dominant inheritance

HP:0000006

Myokymia

HP:0002411

Febrile seizure (within the age range of 3 months to 6 years)

HP:0002373

Hypotonia

HP:0001252

Neonatal onset

HP:0003623

View all

ClinVar Variants

ClinVar contains 10 variants associated with KCNQ2. Below are some notable variants:

NM_172107.4(KCNQ2):c.1725_1727delinsTGCCGGCTTAAGCCG (p.Leu576delinsAlaGlyLeuSerArg)

Uncertain significance

VCV004528162