John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy Volume 18, numéro 1, March 2016

Vidéos

  • RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy
  • RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy
  • RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy

Illustrations

  • Figure 1
  • Figure 2
  • Figure 3
Auteurs
1 Pediatric Neurology, ULB-Hôpital Erasme, Bruxelles
2 Clinical Genetics, ULB-Hôpital Erasme, Bruxelles
3 Neonatal Intensif Care Unit (NICU), CHU Tivoli La Louvière, La Louvière
4 Center for Metabolic Disease, Department of Pediatrics, University of Leuven, Leuven
5 Human Genetics Centre, IPG, Charleroi (Gosselies), Belgium
* Correspondence: Alec Aeby Pediatric Neurology, ULB-Hôpital Erasme, 808 route de Lennik, 1070 Bruxelles, Belgium
  • Mots-clés : RFT1, congenital disorder of glycosylation (CDG) syndrome, N-glycosylation, epilepsy, EEG, early onset epileptic encephalopathy (EOEE)
  • DOI : 10.1684/epd.2016.0802
  • Page(s) : 92-6
  • Année de parution : 2016

RFT1-congenital disorder of glycosylation (CDG) syndrome, a recessive N-glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non-specific epilepsy. The aim of this report is to describe the electroclinical presentation of epilepsy associated with this condition. [Published with video sequences online]