DNM1 epileptic encephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DNM1 epileptic encephalopathy. This is caused by mutations of the DRP1 gene. Fully referenced neurology checklist.

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

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Seizure types

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Other neurological features

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Differential diagnosis

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Electroencephalogram (EEG): features

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Magnetic resonance imaging (MRI) brain: features

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Treatment

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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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