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: LOC105372721
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs1057516105 in
KCNQ2;LOC105372721 gene and
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
PMID 19559753 2009 Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
PMID 15596769 2004 De novo KCNQ2 mutations in patients with benign neonatal seizures.