Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

R, Nabbout; E, Gennaro; Bernardina B, Dalla; O, Dulac; F, Madia; E, Bertini; G, Capovilla; C, Chiron; G, Cristofori; M, Elia; E, Fontana; R, Gaggero; T, Granata; R, Guerrini; M, Loi; Selva L, La; ML, Lispi; A, Matricardi; A, Romeo; V, Tzolas; D, Valseriati; P, Veggiotti; F, Vigevano; L, Vallée; Bricarelli F, Dagna; A, Bianchi; F, Zara

doi:10.1212/01.wnl.0000069463.41870.2f

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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Shared by NobleBlocks on Jun 1, 2003 • 12:00 AM UTC

Authors:

Nabbout R

Gennaro E

Dalla Bernardina B

Abstract

<h4>Objectives</h4>SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI.<h4>Methods</...

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