Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.110 GeneticVariation disease BEFREE Here, we identified a heterozygous SCN9A mutation (c.980G > A chr2:167149868 p.G327E) from two twin sisters with Rolandic epilepsy by whole-exome sequencing. 30834459 2019
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
0.110 CausalMutation disease CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018