Gene: KCNQ2

Alternate names for this Gene: BFNC|EBN|EBN1|ENB1|HNSPC|KCNA11|KV7.2

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: potassium voltage-gated channel subfamily Q member 2

Type of Gene: protein-coding

Gene: LOC105372724

Alternate names for this Gene:

Gene Summary:

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rs35450031 in KCNQ2;LOC105372724 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 12754513 2003 AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

rs1057516123 in KCNQ2;LOC105372724 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 17129708 2007 Benign familial neonatal convulsions: always benign?

rs796052653 in KCNQ2;LOC105372724 gene and Seizures PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

rs773171451 in KCNQ2;LOC105372724 gene and X-linked infantile spasms PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.