Dravet syndrome

Dravet syndrome
Other namesSevere myoclonic epilepsy of infancy, severe polymorphic epilepsy of infancy, borderland SMEI (SMEB), borderline SMEI, intractable childhood epilepsy with generalised tonic clonic seizures (ICEGTCS)
Pronunciation
SpecialtyNeurology

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]

Seizures are the most common form 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]

  1. ^ 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.
  2. ^ 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.
  3. ^ Cite error: The named reference Couzin-Frankel_2015 was invoked but never defined (see the help page).