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A de novo dominant negative mutation in DNM1L causes sudden onset status epilepticus with subsequent epileptic encephalopathy.
Neuropediatrics 50, 197-201 (2019)
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 clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Epileptic Encephalopathy ; Dnm1l ; Drp1 ; Mitochondrial Fission ; Status Epilepticus ; Childhood Epilepsy; Mitochondrial Fission; Optic Atrophy; Middle Domain; Defect; Drp1
Institute(s) Institute of Human Genetics (IHG)