Article
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Journal of child neurology - 1 Sept 2018
Ryan Conor S, Fine Anthony L, Cohen Alexander L, Schiltz Brenda M, Renaud Deborah L, Wirrell Elaine C, Patterson Marc C, Boczek Nicole J, Liu Raymond, Babovic-Vuksanovic Dusica, Chan David C, Payne Eric T
Abstract excerpt
BACKGROUND: The dynamin 1-like gene ( DNM1L) encodes a GTPase that mediates mitochondrial and peroxisomal fission and fusion. We report a new clinical presentation associated with a DNM1L pathogenic variant and review the literature. RESULTS: A 13-year-old boy with mild developmental delays and paroxysmal dystonia presented acutely with multifocal myoclonic super-refractory status epilepticus. Despite sustained...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.