rs397514737, GABRG2

N. diseases: 4
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.010 GeneticVariation BEFREE Recently, we performed next generation sequencing on patients with a spectrum of epileptic encephalopathy phenotypes, and we identified five novel (A106T, I107T, P282S, R323W and F343L) and one known (R323Q) de novo GABRG2 pathogenic variants (mutations) in eight patients. 27864268 2017