| http://purl.uniprot.org/citations/27864847 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27864847 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27864847 | http://www.w3.org/2000/01/rdf-schema#comment | "Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients, epilepsy onset occurred before the age of 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2A was the most frequently mutated gene followed by SCN1A, KCNQ2, STXBP1, SCN8A, CDKL5, and MECP2. Twenty-nine mutations were identified in 23 additional genes, most of them recently associated with epilepsy. Our data show that panels targeting about 100 genes represent the best cost-effective diagnostic option in pediatric drug-resistant epilepsies. They enable molecular diagnosis of atypical phenotypes, allowing to broaden phenotype-genotype correlations. Molecular diagnosis might influence patients' management and translate into better and specific treatment recommendations in some conditions."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.23149"xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.23149"xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Guerrini R."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Guerrini R."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Marini C."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Marini C."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Parrini E."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Parrini E."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Pisano T."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Pisano T."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Mei D."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Mei D."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Mari F."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Mari F."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Barba C."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Barba C."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Bianchini C."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Bianchini C."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Bigoni S."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Bigoni S."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Cellini E."xsd:string |
| http://purl.uniprot.org/citations/27864847 | http://purl.uniprot.org/core/author | "Cellini E."xsd:string |