De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.

Conor S RyanAnthony L FineAlexander Li CohenBrenda M SchiltzDeborah L RenaudElaine C WirrellMarc C PattersonNicole J BoczekRaymond LiuDusica Babovic-VuksanovicDavid C ChanEric T Payne

Published in: Journal of child neurology (2018)

This case highlights the diagnostic importance of rapid whole exome sequencing within a critical care setting and reveals the expanding phenotypic spectrum associated with DNM1L variants. This now includes progressive paroxysmal dystonia and adolescent-onset super-refractory myoclonic status epilepticus contributing to strikingly rapid and progressive cortical atrophy and death.

Keyphrases

multiple sclerosis
deep brain stimulation
atrial fibrillation
early onset
young adults
mental health
catheter ablation
copy number
gene expression
quantum dots