L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
Disease: Drug Resistant Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 GeneticVariation disease BEFREE A genotype-first approach of the whole exome sequence was used to identify compound heterozygous mutations, c.584A>G (p.Y195C) and c.772T>C (p.C258R), in L2HGDH, the gene responsible for this disorder, in an adult patient with intellectual disability and intractable epilepsy. 25982940 2016