title: RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.
abstract: 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].
authors.affiliation: Pediatric Neurology, ULB-Hôpital Erasme, Bruxelles.
authors.forename: Alec
authors.initials: A
authors.lastname: Aeby
authors.affiliation: Pediatric Neurology, ULB-Hôpital Erasme, Bruxelles.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Prigogine
authors.affiliation: Clinical Genetics, ULB-Hôpital Erasme, Bruxelles.
authors.forename: Catheline
authors.initials: C
authors.lastname: Vilain
authors.affiliation: Neonatal Intensif Care Unit (NICU), CHU Tivoli La Louvière, La Louvière.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Malfilatre
authors.affiliation: Center for Metabolic Disease, Department of Pediatrics, University of Leuven, Leuven.
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.affiliation: Human Genetics Centre, IPG, Charleroi (Gosselies), Belgium.
authors.forename: Damien
authors.initials: D
authors.lastname: Lederer
authors.affiliation: Pediatric Neurology, ULB-Hôpital Erasme, Bruxelles.
authors.forename: Patrick
authors.initials: P
authors.lastname: Van Bogaert
mesh_terms: D001921:Brain / Q000503:physiopathology*; D004827:Epilepsy / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006031:Glycosylation; D006801:Humans; D007223:Infant; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
chemical_list: D008562:Membrane Glycoproteins; C486729:RFT1 protein, human
keywords: EEG; N-glycosylation; RFT1; congenital disorder of glycosylation (CDG) syndrome; early onset epileptic encephalopathy (EOEE); epilepsy