| http://purl.uniprot.org/citations/18175077 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18175077 | http://www.w3.org/2000/01/rdf-schema#comment | "The objective was to investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to generalised epilepsy with febrile seizure plus (GEFS+) in two Tunisian families. We performed a genetic study of two multigenerational Tunisian families with GEFS+ spectrum. The molecular analysis included a PCR amplification of SCN1B, SCN1A and GAGRG2 exons, then a screening of the known SCN1B, SCN1A and GABRG2 gene mutations by direct sequencing. The data excluded the involvement of all known published mutations. However, an insertion of a T nucleotide at a heterozygous state within the intron 12 of the SCN1A gene has been identified in two probands and their parents. Our results corroborate the genetic heterogeneity of GEFS+ predominantly in epilepsy patients of different countries and ethnic groups."xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10072-007-0844-7"xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/author | "Mrabet A."xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/author | "Belhedi N."xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/author | "Bouchlaka S."xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/author | "El Gaaied A."xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/author | "Mrabet H."xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/name | "Neurol Sci"xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/pages | "311-314"xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/title | "GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian families."xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://purl.uniprot.org/core/volume | "28"xsd:string |
| http://purl.uniprot.org/citations/18175077 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18175077 |
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| http://purl.uniprot.org/uniprot/#_A0A2R4LFM3-mappedCitation-18175077 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18175077 |
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| http://purl.uniprot.org/uniprot/#_A0A2U8RN71-mappedCitation-18175077 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18175077 |
| http://purl.uniprot.org/uniprot/#_A0A2U8RN74-mappedCitation-18175077 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18175077 |
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