Variant: rs797044938 

    present in Gene: KCNQ2
    present in Chromosome: 20
    Position on Chromosome: 63442529
    Alleles of this Variant: C/A;G

rs797044938 in KCNQ2 gene and Muscle hypotonia PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

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

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

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

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

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

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

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

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

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

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

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

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

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

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

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

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

rs797044938 in KCNQ2 gene and Seizures PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.