Gene: LOC105372721

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1057516104 in LOC105372721;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

rs1057516106 in LOC105372721;KCNQ2 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 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 17993630 2008 Calmodulin regulates the trafficking of KCNQ2 potassium channels.