Variant: rs1554094278 

    present in Gene: GABRB2
    present in Chromosome: 5
    Position on Chromosome: 161336685
    Alleles of this Variant: T/G

rs1554094278 in GABRB2 gene and Muscle hypotonia PMID 27789573 2017 A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.

PMID 25194483 2014 Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.

PMID 25124326 2014 A novel variant in GABRB2 associated with intellectual disability and epilepsy.

PMID 23038269 2012 Structure, function, and modulation of GABA(A) receptors.

PMID 26350515 2016 Novel genetic causes for cerebral visual impairment.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 26050032 2015 The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.