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

par Aeby, Alec ;Prigogine, Cynthia ;Vilain, Catheline ;Malfilatre, Geneviève;Jaeken, Jaak;Lederer, Damien;Van Bogaert, Patrick
Référence Epileptic disorders, 18, 1, page (92-96)
Publication Publié, 2016-03

Article révisé par les pairs

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Résumé :

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.