Gene: LOC105372724

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

rs267607198 in LOC105372724;KCNQ2 gene and EPILEPSY, BENIGN NEONATAL, 2 PMID 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

rs118192234 in LOC105372724;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 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.

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

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

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PMID 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

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

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

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

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

PMID 24371303 2014 KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

rs118192234 in LOC105372724;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 11690625 2001 Ion channel variation causes epilepsies.

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

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

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

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

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

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

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

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

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

rs118192236 in LOC105372724;KCNQ2 gene and X-linked infantile spasms PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

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

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 27535030 2017 Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

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