Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.

Abstract excerpt

Dravet syndrome, often caused by mutations of SCN1A-gene, presents with prolonged clonic, generalized or unilateral seizures often occurring with fever during the first year of life, followed by usually severe epilepsy. The EEG, normal at the outset, later shows generalized and focal epileptic activities. The psychomotor development deteriorates, but little is known about the time course of the cognitive...

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