Variant: rs1555889114 

    present in Gene: LOC105372649;KCNB1
    present in Chromosome: 20
    Position on Chromosome: 49374572
    Alleles of this Variant: C/T

rs1555889114 in LOC105372649;KCNB1 gene and Muscle hypotonia PMID 27928161 2017 Novel KCNB1 mutation associated with non-syndromic intellectual disability.

PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

PMID 25164438 2014 De novo KCNB1 mutations in epileptic encephalopathy.

PMID 7751950 1995 Differential spatiotemporal expression of K+ channel polypeptides in rat hippocampal neurons developing in situ and in vitro.

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

PMID 15950285 2005 Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.