| http://purl.uniprot.org/citations/21204808 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21204808 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21204808 | http://www.w3.org/2000/01/rdf-schema#comment | "Paroxysmal exercise-induced dyskinesia (PED) and epilepsy without intellectual disability have recently been recognized as manifestations of deficiency of the glucose transporter GLUT1, due to mutations in the gene SLC2A1. We describe a family with six definitely affected members in two generations. Two had PED, three had epilepsy, and one had both. A missense mutation in SLC2A1 (c.950A>C; p.N317T) was detected in five living affected members, but absent in three nonaffected first-degree members and in one subject believed to be a phenocopy. The clinical picture of mild epilepsy with onset in adolescence or early adulthood plus PED should raise a suspicion of GLUT1 deficiency."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1528-1167.2010.02726.x"xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.org/dc/terms/identifier | "doi:10.1111/j.1528-1167.2010.02726.x"xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Oliver K."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Oliver K."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Berkovic S.F."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Berkovic S.F."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "De Jonghe P."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "De Jonghe P."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Suls A."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Suls A."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Afawi Z."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Afawi Z."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Kivity S."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Kivity S."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Neufeld M.Y."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Neufeld M.Y."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Ekstein D."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Ekstein D."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Korczyn A.D."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/author | "Korczyn A.D."xsd:string |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/21204808 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |