| Literature DB >> 26892341 |
Alec Aeby1, Cynthia Prigogine1, Catheline Vilain2, Geneviève Malfilatre3, Jaak Jaeken4, Damien Lederer5, Patrick Van Bogaert1.
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].Entities:
Keywords: EEG; N-glycosylation; RFT1; congenital disorder of glycosylation (CDG) syndrome; early onset epileptic encephalopathy (EOEE); epilepsy
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Year: 2016 PMID： 26892341 DOI： 10.1684/epd.2016.0802
Source DB: PubMed Journal: Epileptic Disord ISSN： 1294-9361 Impact factor: 1.819