rs776095655, SLC2A1

N. diseases: 8
Disease: Myoclonic Epilepsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myoclonic Epilepsy
CUI: C0014550
Disease: Myoclonic Epilepsy
0.010 GeneticVariation BEFREE We report the case of a young boy carrying a de novo missense mutation (c.1199G>T; p.R400L) in the SLC2A1 gene who presented initially with benign myoclonic epilepsy of infancy. 21865127 2011