Dravet syndrome | |
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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 | |
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]
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]
Couzin-Frankel_2015
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