A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome

Initially described by Dr. Charlotte Dravet over 30 years ago [1], Dravet syndrome (OMIM #607208) is an infantile-onset epileptic encephalopathy associated with global developmental delays and intractable epilepsy. Hallmarks of the disease include initial normal development and seizure onset typically in the first year of life, consisting of prolonged generalized or unilateral clonic seizures often following a febrile illness or vaccination. Subsequent intractable epilepsy comprises multiple seizure types (generalized tonic-clonic, alternating hemiconvulsive, absence, myoclonic, and other focal seizures) that often requires antiepileptic polytherapy.

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