KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Abstract excerpt

Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed...

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