Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

J, Denis; N, Villeneuve; P, Cacciagli; C, Mignon-Ravix; C, Lacoste; J, Lefranc; S, Napuri; L, Damaj; F, Villega; JM, Pedespan; S, Moutton; C, Mignot; D, Doummar; L, Lion-François; S, Gataullina; O, Dulac; M, Martin; S, Gueden; G, Lesca; S, Julia; C, Cances; H, Journel; C, Altuzarra; Zeev B, Ben; A, Afenjar; M, Barth; L, Villard; M, Milh

doi:10.1111/epi.14727

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Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Shared by NobleBlocks on Apr 26, 2019 • 12:00 AM UTC

Authors:

Denis J

Villeneuve N

Cacciagli P

Abstract

Objective To describe the mode of onset of SCN8A-related severe epilepsy in order to facilitate early recognition, and eventually early treatment with sodium channel blockers.Methods We reviewed the phenotype of patients carrying a mutation in the SCN8A gene, among a multicentric cohort of 638 patie...

Subject

Genetics

Pediatrics

Epileptic Encephalopathy

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