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| http://purl.uniprot.org/citations/26892341 | http://www.w3.org/2000/01/rdf-schema#comment | "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]."xsd:string |
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| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/author | "Van Bogaert P."xsd:string |
| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/author | "Jaeken J."xsd:string |
| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/author | "Vilain C."xsd:string |
| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/author | "Lederer D."xsd:string |
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| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/author | "Prigogine C."xsd:string |
| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/author | "Malfilatre G."xsd:string |
| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/name | "Epileptic Disord"xsd:string |
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| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/title | "RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy."xsd:string |
| http://purl.uniprot.org/citations/26892341 | http://purl.uniprot.org/core/volume | "18"xsd:string |
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