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

Epileptic Disord. 2016 Mar;18(1):92-6. doi: 10.1684/epd.2016.0802.

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].

Keywords: EEG; N-glycosylation; RFT1; congenital disorder of glycosylation (CDG) syndrome; early onset epileptic encephalopathy (EOEE); epilepsy.

Publication types

  • Case Reports

MeSH terms

  • Brain / physiopathology*
  • Epilepsy / congenital*
  • Epilepsy / diagnosis
  • Epilepsy / genetics*
  • Female
  • Glycosylation*
  • Humans
  • Infant
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation / genetics*

Substances

  • Membrane Glycoproteins
  • RFT1 protein, human