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

Epileptic Disord. 2016 Mar 1;18(1):92-6

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摘要

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

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