DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
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
0.330 Biomarker disease BEFREE This paper presents a novel case of adolescent-onset DNM1L-related intractable epilepsy and encephalopathy. 30767894 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.330 GeneticVariation disease BEFREE Previously reported probands with de novo missense mutations in DNM1L presented in the first year of life with severe encephalopathy and refractory epilepsy, with several dying within the first several weeks after birth. 27145208 2016
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.330 Biomarker disease GENOMICS_ENGLAND Previously reported probands with de novo missense mutations in DNM1L presented in the first year of life with severe encephalopathy and refractory epilepsy, with several dying within the first several weeks after birth. 27145208 2016
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.330 Biomarker disease BEFREE DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016