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
Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.604105
Abstract: DNM1L encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several de novo heterozygous missense mutations in DNM1L have been reported,… read more here.
Keywords: developmental delay; novo mutation; peripheral neuropathy; dnm1l ... See more keywords