Variant: rs886037938 

    present in Gene: GABRB3
    present in Chromosome: 15
    Position on Chromosome: 26621417
    Alleles of this Variant: C/T

rs886037938 in GABRB3 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 26950270 2016 Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.