Gene: KCNQ3

Alternate names for this Gene: BFNC2|EBN2|KV7.3

Gene Summary: This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.22

Description of this Gene: potassium voltage-gated channel subfamily Q member 3

Type of Gene: protein-coding

rs111248619 in KCNQ3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 31324766 2019 ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.

rs118192248 in KCNQ3 gene and EPILEPSY, BENIGN NEONATAL, 2 PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

rs1381851622 in KCNQ3 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs2673604 in KCNQ3 gene and Interleukin 8 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs749205120 in KCNQ3 gene and Muscle hypotonia 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 10852552 2000 A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.

PMID 19298256 2009 Neural KCNQ (Kv7) channels.

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

PMID 23596459 2013 Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 23146207 2013 Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

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 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 9425900 1998 A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs749205120 in KCNQ3 gene and Poor school performance PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.