rs211037, GABRG2

N. diseases: 14
Disease: Epilepsy, Generalized ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
0.010 GeneticVariation BEFREE This case-control study aimed to assess two single nucleotide polymorphisms of the gene encoding the GABRG2 protein - GABRG2 (3145 G>A) and GABRG2 rs 211037 Asn196Asn (C588T) - in a cohort of pediatric patients from Romania, and evaluate their possible impact on drug-resistant forms of generalized epilepsy and recurrent febrile seizures. 29379546 2018