Titre:
  • "Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency.
Auteur:Gaspard, Nicolas; Suls, Arvid; Vilain, Catheline; de Jonghe, Peter; Van Bogaert, Patrick
Informations sur la publication:Epileptic disorders, 13, 3, page (300-303)
Statut de publication:Publié, 2011-09
Sujet CREF:Génétique moléculaire
Neurologie pédiatrique
Génétique clinique
Mots-clés:Children
De vivo syndrome
Myoclonic epilepsy of infancy
Myoclonus
Seizure
SLC2A1
MeSH keywords:DNA -- genetics
Electroencephalography
Epilepsy, Benign Neonatal -- etiology -- genetics
Gait Disorders, Neurologic -- genetics
Glucose Transporter Type 1 -- deficiency -- genetics
Humans
Infant
Ketogenic Diet
Male
Mutation, Missense -- genetics
Myoclonic Epilepsy, Juvenile -- etiology -- genetics
Seizures -- etiology -- genetics
Note générale:Case Reports
Journal Article
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1294-9361
info:doi/10.1684/epd.2011.0452
info:pii/epd.2011.0452
info:scp/84856404355
info:pmid/21865127