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RFT1‐congenital disorder of glycosylation (CDG) syndrome: a cause of early‐onset severe epilepsy
Author(s) -
Aeby Alec,
Prigogine Cynthia,
Vilain Catheline,
Malfilatre Geneviève,
Jaeken Jaak,
Lederer Damien,
Van Bogaert Patrick
Publication year - 2016
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2016.0802
Subject(s) - epilepsy , medicine , mutation , pediatrics , glycosylation , haploinsufficiency , neurology , genetics , gene , psychiatry , biology , phenotype
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 ]