Variant: rs773171451 

    present in Gene: KCNQ2;LOC105372724
    present in Chromosome: 20
    Position on Chromosome: 63413535
    Alleles of this Variant: G/A;T

rs773171451 in KCNQ2;LOC105372724 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

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

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

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

rs773171451 in KCNQ2;LOC105372724 gene and X-linked infantile spasms PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

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

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