Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.
Fiche publication
Date publication
mai 2020
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Rudolf G, de Bellescize J, de Saint Martin A, Arzimanoglou A, Valenti Hirsch MP, Labalme A, Boulay C, Simonet T, Boland A, Deleuze JF, Nitschké P, Ollivier E, Sanlaville D, Hirsch E, Chelly J, Lesca G
Lien Pubmed
Résumé
Self-limited focal epilepsies of childhood (SFEC) are amongst the best defined and most frequent epilepsy syndromes affecting children with usually normal developmental milestones. They include core syndromes such as Rolandic epilepsy or "Benign" epilepsy with Centro-Temporal Spikes and the benign occipital epilepsies, the early onset Panayiotopoulos syndrome and the late-onset Gastaut type. Atypical forms exist for all of them. Atypical Rolandic epilepsies are conceptualized as belonging to a continuum reaching from the "benign" RE to the severe end of the Landau-Kleffner (LKS) and Continuous Spike-Waves during Sleep syndromes (CSWS). GRIN2A has been shown to cause the epilepsy-aphasia continuum that includes some patients with atypical Rolandic epilepsy with frequent speech disorders, LKS and CSWS. In the present study, we searched novel genes causing SFEC with typical or atypical presentations.
Mots clés
Atypical rolandic epilepsy, Focal idiopathic epilepsies of childhood, Gastaut type, Panayiotopoulous syndrome, Rolandic epilepsy, Self-limited focal epilepsies of childhood (SFEC)
Référence
Eur. J. Paediatr. Neurol.. 2020 May 29;: