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[摘要]：Dravet syndrome, or severe myoclonic epilepsy of infancy (SMEI), is an intractable epileptic encephalopathy first described by Dravet in 7978 It Its characterized by fever-sensitive and refractory generalized clonic, tonic-clonic or unilateral seizures that occur during the first year of life, followed by intractable epilepsy, psychomotor impairment and ataxia Developmental outcome is poor, with a high mortality rote in childhood Mutations of the neuronal voltage-gated sodium channel protein type 1 subunit alpha (SCN1A) gene encoding Na(v)11 hove been identified as the most frequent genetic Cause for the spectrum of genetic and febrile sodium channel epilepsies Disease penetration tics been shown to be highly dependent on parental genetic background, underscoring the Importance of genetic counseling This review will present the latest advances in the genetic characterization of Dravet syndrome, as well as the current disease management strategies |
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