Dravet syndrome
| Dravet syndrome | |
|---|---|
| Other names | Severe myoclonic epilepsy of infancy, severe polymorphic epilepsy of infancy, borderland SMEI (SMEB), borderline SMEI, intractable childhood epilepsy with generalised tonic clonic seizures (ICEGTCS) |
| Pronunciation |
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| Specialty | Neurology |
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever.[1] It is very difficult to treat with anticonvulsant medications. It often begins before one year of age,[1] with six months being the age that seizures, characterized by prolonged convulsions and triggered by fever, usually begin.[2]
Prolonged seizures in the first year of life are the most indicative physical manifestation of DS.[2] DS is diagnosed clinically, and genetic testing is recommended if there is any doubt.[2] Due to drug-refractory epilepsy in DS, many other therapies are being explored to prolong the life expectancy of patients.[3]
- ^ a b Shorvon SD, Guerrini R, Cook M, eds. (2013). Oxford textbook of epilepsy and epileptic seizures. Oxford: Oxford Univ. Press. p. 13. ISBN 978-0-19-965904-3.
- ^ a b c McIntosh AM, McMahon J, Dibbens LM, Iona X, Mulley JC, Scheffer IE, Berkovic SF (June 2010). "Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study". The Lancet. Neurology. 9 (6): 592–8. doi:10.1016/S1474-4422(10)70107-1. PMID 20447868. S2CID 2676315. ProQuest 314128956.
- ^ Cite error: The named reference
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