par Wolff, Markus;Deconinck, Nicolas ; [et al.]
Référence Brain, 140, 5, page (1316-1336)
Publication Publié, 2017-05
Article révisé par les pairs
Titre:
  • Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Auteur:Wolff, Markus; Deconinck, Nicolas; et al.
Informations sur la publication:Brain, 140, 5, page (1316-1336)
Statut de publication:Publié, 2017-05
Sujet CREF:Neurologie
Mots-clés:epilepsy
epilepsy genetics
SCN2A
sodium channel blockers
treatment response
MeSH keywords:Adolescent
Adult
Age of Onset
Child
Child, Preschool
Denmark -- epidemiology
Epilepsy -- drug therapy -- epidemiology -- genetics -- physiopathology
Female
Humans
Infant
Male
Mutation
NAV1.2 Voltage-Gated Sodium Channel -- genetics -- physiology
Neurodevelopmental Disorders -- genetics
Phenotype
Sodium Channel Blockers -- therapeutic use
Young Adult
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0006-8950
info:doi/10.1093/brain/awx054
info:pii/3098477
info:scp/85019584830
info:pmid/28379373