KCNQ2 Chromosome 20
Potassium voltage-gated channel subfamily Q member 2
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What This Gene Does
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000075043
Associated Conditions (35)
Seizures
benign familial neonatal
1
Developmental and epileptic encephalopathy
7
Inborn genetic diseases
Early-infantile DEE
Epileptic encephalopathy
Complex neurodevelopmental disorder
Paroxysmal central nervous system disorders
KCNQ2-related disorder
Seizure
See cases
Neonatal encephalopathy
Continuous spike and waves during slow sleep
Intellectual disability
Epilepsy
benign neonatal
and/or myokymia
Autosomal dominant epilepsy
+15 more conditions
Key Variants
RS1057516092
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS1057518492
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1057519535
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS1057523550
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1064793334
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS117067974
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS1178354607
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS118192219
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS118192232
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS118192235
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Seizures, benign familial neonatal
Health Risk
RS12481082
Conflicting classifications of pathogenicity
Seizures, benign familial neonatal, 1
Health Risk
RS1264858438
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (658)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS796052656 | Health Risk | Conflicting classifications of pathogenicity | Complex neurodevelopmental disorder, Early-infantile DEE, Complex neurodevelopmental disorder |
| RS868761735 | Health Risk | Conflicting classifications of pathogenicity | Early-infantile DEE, Early-infantile DEE |
| RS886041860 | Health Risk | Conflicting classifications of pathogenicity | KCNQ2-related disorder, Early-infantile DEE, KCNQ2-related disorder |
| RS886056921 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS897976020 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 7, Inborn genetic diseases |
| RS908502131 | Health Risk | Conflicting classifications of pathogenicity | Seizures, benign familial neonatal, 1 |
| RS915805727 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, See cases, Early-infantile DEE |
| RS1057516076 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516077 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, KCNQ2-related disorder |
| RS1057516083 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1057516089 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516093 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1057516097 | Health Risk | Likely pathogenic | — |
| RS1057516100 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1057516103 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1057516105 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516106 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516111 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057516123 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1057517919 | Health Risk | Likely pathogenic | Seizure, KCNQ2-related disorder, Epilepsy |
| RS1057518068 | Health Risk | Likely pathogenic | — |
| RS1057518489 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |
| RS1057518619 | Health Risk | Likely pathogenic | — |
| RS1057524599 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1057524860 | Health Risk | Likely pathogenic | — |
| RS1060499545 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1060500603 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064793392 | Health Risk | Likely pathogenic | KCNQ2-related disorder, KCNQ2-related disorder |
| RS1064794686 | Health Risk | Likely pathogenic | — |
| RS1064795435 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1064796535 | Health Risk | Likely pathogenic | — |
| RS1064796940 | Health Risk | Likely pathogenic | — |
| RS1064797285 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1085307920 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Seizures |
| RS1131691356 | Health Risk | Likely pathogenic | — |
| RS118192216 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192217 | Health Risk | Likely pathogenic | Seizure, Seizures, benign familial neonatal |
| RS118192221 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS118192225 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS118192234 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1241388377 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS1272165811 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1307396168 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1371059392 | Health Risk | Likely pathogenic | Seizures, benign familial neonatal, 1 |
| RS1392647178 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy |
| RS1394738986 | Health Risk | Likely pathogenic | — |
| RS1409265816 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS147882199 | Health Risk | Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1555853524 | Health Risk | Likely pathogenic | — |
| RS1555853593 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 7, Early-infantile DEE |