DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Disease: Status Epilepticus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.150 GeneticVariation disease BEFREE A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy. 30939602 2019
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.150 GeneticVariation disease BEFREE De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus. 29877124 2018
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.150 Biomarker disease BEFREE These findings indicate that TRPC6 may regulate mitochondrial dynamics via ERK1/2-mediaed DRP1 activation, which would be involved in DGC invulnerability to SE. 28479396 2017
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.150 PosttranslationalModification disease BEFREE These effects of CDK5 inhibitors were relevant to abrogation of altered DRP1 phosphorylation ratio and mitochondrial length induced by SE. 28153522 2017
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.150 Biomarker disease BEFREE p47Phox/CDK5/DRP1-Mediated Mitochondrial Fission Evokes PV Cell Degeneration in the Rat Dentate Gyrus Following Status Epilepticus. 28919853 2017
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.150 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.150 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016