A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1685217
Abstract: Mitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The… read more here.
Keywords: status epilepticus; dnm1l; sudden onset; mutation dnm1l ... See more keywords