Dravet syndrome: investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Dravet syndrome: investigations. This is the voltage gated sodium channel 1.1. Fully referenced neurology checklist.
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
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Electroencephalogram (EEG)
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Magnetic resonance imaging (MRI) brain: features
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References
- van Dam VS, Korff CM. Dravet syndrome: an update. Schweiz Arch Neurol Psychiatr 2013; 164:153-157.
- 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.
- Wirrell EC, Laux L, Franz DN, et al. Stiripentol in Dravet syndrome: results of a retrospective U.S. study. Epilepsia 2013; 54:1595-1604.
- Millichap JJ, Koh S, Laux LC, Nordli DR. Dravet syndrome: when to suspect the diagnosis. Neurology 2009; 73:e59-e62.
- van Dam VS, Korff CM. Dravet syndrome: an update. Schweiz Arch Neurol Psychiatr 2013; 164:153-157.
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