Variant: rs1555889130 

    present in Gene: LOC105372649;KCNB1
    present in Chromosome: 20
    Position on Chromosome: 49374644
    Alleles of this Variant: G/A

rs1555889130 in LOC105372649;KCNB1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 PMID 26503721 2015 A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

PMID 26477325 2015 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

PMID 25164438 2014 De novo KCNB1 mutations in epileptic encephalopathy.

PMID 28806457 2017 Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.