Variant: rs1057516085 

    present in Gene: KCNQ2
    present in Chromosome: 20
    Position on Chromosome: 63444747
    Alleles of this Variant: C/T

rs1057516085 in KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

rs1057516085 in KCNQ2 gene and X-linked infantile spasms 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 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 28867141 2017 Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

PMID 28139826 2017 Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

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

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

PMID 29190809 2017 Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.