Variant: rs796052653 

    present in Gene: KCNQ2;LOC105372724
    present in Chromosome: 20
    Position on Chromosome: 63413526
    Alleles of this Variant: C/A;T

rs796052653 in KCNQ2;LOC105372724 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

rs796052653 in KCNQ2;LOC105372724 gene and Seizures PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

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.