Variant: rs118192236

present in Gene: LOC105372724;KCNQ2 present in Chromosome: 20 Position on Chromosome: 63413472 Alleles of this Variant: G/A;C

rs118192236 in LOC105372724;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

rs118192236 in LOC105372724;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 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.

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.