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- W2550786968 abstract "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." @default.
- W2550786968 created "2016-11-30" @default.
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- W2550786968 date "2016-12-09" @default.
- W2550786968 modified "2023-10-18" @default.
- W2550786968 title "Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes" @default.
- W2550786968 cites W1506219947 @default.
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- W2550786968 cites W1673813955 @default.
- W2550786968 cites W1749057191 @default.
- W2550786968 cites W1758910351 @default.
- W2550786968 cites W1920696238 @default.
- W2550786968 cites W1921449796 @default.
- W2550786968 cites W1962504140 @default.
- W2550786968 cites W1963557285 @default.
- W2550786968 cites W1979164809 @default.
- W2550786968 cites W1988595550 @default.
- W2550786968 cites W1989026211 @default.
- W2550786968 cites W1995469989 @default.
- W2550786968 cites W1997349061 @default.
- W2550786968 cites W2011278122 @default.
- W2550786968 cites W2014924415 @default.
- W2550786968 cites W2015447367 @default.
- W2550786968 cites W2015661795 @default.
- W2550786968 cites W2016194769 @default.
- W2550786968 cites W2020891247 @default.
- W2550786968 cites W2023235195 @default.
- W2550786968 cites W2034163951 @default.
- W2550786968 cites W2034651748 @default.
- W2550786968 cites W2034966688 @default.
- W2550786968 cites W2036083605 @default.
- W2550786968 cites W2037427081 @default.
- W2550786968 cites W2038653493 @default.
- W2550786968 cites W2039726331 @default.
- W2550786968 cites W2047243927 @default.
- W2550786968 cites W2047498240 @default.
- W2550786968 cites W2048584424 @default.
- W2550786968 cites W2051978340 @default.
- W2550786968 cites W2055244519 @default.
- W2550786968 cites W2065972516 @default.
- W2550786968 cites W2072020099 @default.
- W2550786968 cites W2073032316 @default.
- W2550786968 cites W2099478180 @default.
- W2550786968 cites W2101412130 @default.
- W2550786968 cites W2103096084 @default.
- W2550786968 cites W2103441770 @default.
- W2550786968 cites W2109009595 @default.
- W2550786968 cites W2111796184 @default.
- W2550786968 cites W2112922820 @default.
- W2550786968 cites W2119180969 @default.
- W2550786968 cites W2120480653 @default.
- W2550786968 cites W2120773704 @default.
- W2550786968 cites W2134311462 @default.
- W2550786968 cites W2136336328 @default.
- W2550786968 cites W2141152871 @default.
- W2550786968 cites W2142980147 @default.
- W2550786968 cites W2145856650 @default.
- W2550786968 cites W2147751393 @default.
- W2550786968 cites W2150924058 @default.
- W2550786968 cites W2155930900 @default.
- W2550786968 cites W2161860923 @default.
- W2550786968 cites W2168092200 @default.
- W2550786968 cites W2192898367 @default.
- W2550786968 cites W2195214386 @default.
- W2550786968 cites W2214739074 @default.
- W2550786968 cites W2225287204 @default.
- W2550786968 cites W2281890638 @default.
- W2550786968 cites W2292044276 @default.
- W2550786968 cites W2296516270 @default.
- W2550786968 cites W2297652426 @default.
- W2550786968 cites W2302301648 @default.
- W2550786968 cites W2336680935 @default.
- W2550786968 cites W2337983773 @default.
- W2550786968 cites W2342583152 @default.
- W2550786968 cites W2510633174 @default.
- W2550786968 cites W327759102 @default.
- W2550786968 cites W4211231125 @default.
- W2550786968 cites W4239594659 @default.
- W2550786968 doi "https://doi.org/10.1002/humu.23149" @default.
- W2550786968 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27864847" @default.
- W2550786968 hasPublicationYear "2016" @default.