Dravet syndrome: investigations

Evidence-based neurology checklist on dravet syndrome: investigations: Genetics: SCN1A gene mutations This is the voltage gated sodium channel 1.1 The mutations are present in 80-90% of cases 90% of them arise de novo There are >500 mutations Genetics: other gene mutations Electroencephalogram…

Genetics: SCN1A gene mutations

  • This is the voltage gated sodium channel 1.1
  • The mutations are present in 80-90% of cases
  • 90% of them arise de novo
  • There are >500 mutations

Genetics: other gene mutations

Electroencephalogram (EEG)

Magnetic resonance imaging (MRI) brain: features

References

  1. van Dam VS, Korff CM. Dravet syndrome: an update. Schweiz Arch Neurol Psychiatr 2013; 164:153-157.
  2. Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. Epilepsia 2015; 56:1185-1197.
  3. Wirrell EC, Laux L, Franz DN, et al. Stiripentol in Dravet syndrome: results of a retrospective U.S. study. Epilepsia 2013; 54:1595-1604.
  4. Millichap JJ, Koh S, Laux LC, Nordli DR. Dravet syndrome: when to suspect the diagnosis. Neurology 2009; 73:e59-e62.
  5. van Dam VS, Korff CM. Dravet syndrome: an update. Schweiz Arch Neurol Psychiatr 2013; 164:153-157.
  6. And 4 more. Subscribe to see the full list

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