Variant: rs397514737

present in Gene: GABRG2 present in Chromosome: 5 Position on Chromosome: 162149153 Alleles of this Variant: G/A

rs397514737 in GABRG2 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs397514737 in GABRG2 gene and GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 PMID 11326274 2001 First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

rs397514737 in GABRG2 gene and Seizures PMID 25730860 2015 Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.