Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

Abstract excerpt

Mutations in SCN1A gene have been associated with the spectrum of generalized/genetic epilepsy with febrile seizures plus. Recently, databases reporting SCN1A mutations and clinical details of patients have been created to facilitate genotype- phenotype correlations, actually not completely defined, particularly if a specific mutation underlies phenotypes. We report on a group of 15 patients with clinical...

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