DNM1 epileptic encephalopathy

Evidence-based neurology checklist on dnm1 epileptic encephalopathy: Genetics This is caused by mutations of the DRP1 gene This encodes dynamin related protein 1 (DRP1) It is a disorder of vesicle fission Seizure syndromes Seizure types Other neurological features Differential diagnosis…

Genetics

  • This is caused by mutations of the DRP1 gene
  • This encodes dynamin related protein 1 (DRP1)
  • It is a disorder of vesicle fission

Seizure syndromes

Seizure types

Other neurological features

Differential diagnosis

Electroencephalogram (EEG): features

Magnetic resonance imaging (MRI) brain: features

Treatment

References

  1. von Spiczak S, Helbig KL, Shinde DN, et al; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group.DNM1 encephalopathy: a new disease of vesicle fission. Neurology 2017; 89:385-394. 
  2. Nakashima M, Kouga T, Lourenço CM, et al. De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia 2016; 57:e18-e23.
  3. Ladds E, Whitney A, Dombi E, et al. De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity. Neurol Genet. 2018; 4:e258.
  4. Nolan DA, Chen B, Michon AM, Salatka E, Arndt D. A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype. Epileptic Disord 2019; 21:112-116.

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