rs80359818, SLC2A1

N. diseases: 8
Disease: Myoclonic Absence Epilepsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myoclonic Absence Epilepsy
CUI: C0393703
Disease: Myoclonic Absence Epilepsy
0.010 GeneticVariation BEFREE Here we describe a novel Turkish patient with a hot-spot mutation (R126C) in the SLC2A1 gene who presented with unusual myoclonic absence epilepsy and paroxysmal shivering. 21546317 2011