Mild malformations of cortical development in sleep-related hypermotor epilepsy due to mutations.
Fiche publication
Date publication
février 2019
Journal
Annals of clinical and translational neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Rubboli G, Plazzi G, Picard F, Nobili L, Hirsch E, Chelly J, Prayson RA, Boutonnat J, Bramerio M, Kahane P, Dibbens LM, Gardella E, Baulac S, Møller RS
Lien Pubmed
Résumé
Mutations in the sodium-activated potassium channel gene have been associated with nonlesional sleep-related hypermotor epilepsy (SHE). We report the co-occurrence of mild malformation of cortical development (mMCD) and mutations in four patients with SHE. Focal cortical dysplasia type I was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI-negative patients, periventricular nodular heterotopia was detected in one patient by MRI. Our findings suggest that epileptogenicity may result not only from dysregulated excitability by controlling Na+K+ transport, but also from mMCD. Therefore, pathogenic variants in may encompass both lesional and nonlesional epilepsies.
Référence
Ann Clin Transl Neurol. 2019 Feb;6(2):386-391