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

Alec Aeby; Cynthia Prigogine; Catheline Vilain; Geneviève Malfilatre; Jaak Jaeken; Damien Lederer

doi:10.1684/epd.2016.0802

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

Alec Aeby, Cynthia Prigogine, Catheline Vilain, Geneviève Malfilatre, Jaak Jaeken, Damien Lederer

Epileptic Disorders2016doi:10.1684/epd.2016.0802

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Abstract

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 ]

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Alec Aeby#1 Cynthia Prigogine#2 Catheline Vilain#3 Geneviève Malfilatre#4 Jaak Jaeken#5 Damien Lederer#6

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europepmc

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

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