Gene: KCNQ2-AS1

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

rs118192192 in KCNQ2-AS1;KCNQ2 gene and EPILEPSY, BENIGN NEONATAL, 2 PMID 19464834 2009 Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.

PMID 18625963 2008 KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

rs1057516077 in KCNQ2-AS1;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 23692823 2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs1057516076 in KCNQ2-AS1;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 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 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PMID 11175290 2000 Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 15596769 2004 De novo KCNQ2 mutations in patients with benign neonatal seizures.

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.