PMC:6610391 / 5500-6584
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6610391","sourcedb":"PMC","sourceid":"6610391","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6610391","text":"Overall, a cause was identified in 64.4% of patients in the NISC cohort, including 57.6% identified with MRI and genetic testing alone, highlighting the importance of these evaluations.9 However, approximately 1/3 of patients with IS had no identifiable etiology. What tests should be done next? The NISC cohort did not identify an etiology through whole exome sequencing, but only 3 patients underwent this analysis.9 The multicenter Epilepsy Phenome/Genome Project (EPGP) database identified 126 patients with IS of unknown cause. Of these, 100 underwent whole exome sequencing. Pathogenic de novo variants were identified in 15 individuals; 105 de novo variants were identified in 62 patients, but most of these were of unknown significance. In contrast, evaluation for metabolic cause identified an etiology in only 4.8% of the NISC cohort.9 Therefore, investigations for etiology in children with IS should include clinical evaluation, MRI, aCGH, and epilepsy gene panel, as previously recommended. If no cause is identified, whole exome sequencing should be strongly considered.","tracks":[{"project":"MyTest","denotations":[{"id":"31062601-25779538-28638758","span":{"begin":185,"end":187},"obj":"25779538"},{"id":"31062601-25779538-28638759","span":{"begin":417,"end":419},"obj":"25779538"},{"id":"31062601-25779538-28638760","span":{"begin":844,"end":846},"obj":"25779538"}],"namespaces":[{"prefix":"_base","uri":"https://www.uniprot.org/uniprot/testbase"},{"prefix":"UniProtKB","uri":"https://www.uniprot.org/uniprot/"},{"prefix":"uniprot","uri":"https://www.uniprot.org/uniprotkb/"}],"attributes":[{"subj":"31062601-25779538-28638758","pred":"source","obj":"MyTest"},{"subj":"31062601-25779538-28638759","pred":"source","obj":"MyTest"},{"subj":"31062601-25779538-28638760","pred":"source","obj":"MyTest"}]},{"project":"0_colil","denotations":[{"id":"31062601-25779538-491","span":{"begin":185,"end":186},"obj":"25779538"},{"id":"31062601-25779538-492","span":{"begin":417,"end":418},"obj":"25779538"},{"id":"31062601-25779538-493","span":{"begin":844,"end":845},"obj":"25779538"}],"attributes":[{"subj":"31062601-25779538-491","pred":"source","obj":"0_colil"},{"subj":"31062601-25779538-492","pred":"source","obj":"0_colil"},{"subj":"31062601-25779538-493","pred":"source","obj":"0_colil"}]},{"project":"2_test","denotations":[{"id":"31062601-25779538-28638758","span":{"begin":185,"end":186},"obj":"25779538"},{"id":"31062601-25779538-28638759","span":{"begin":417,"end":418},"obj":"25779538"},{"id":"31062601-25779538-28638760","span":{"begin":844,"end":845},"obj":"25779538"}],"attributes":[{"subj":"31062601-25779538-28638758","pred":"source","obj":"2_test"},{"subj":"31062601-25779538-28638759","pred":"source","obj":"2_test"},{"subj":"31062601-25779538-28638760","pred":"source","obj":"2_test"}]},{"project":"testtesttest","denotations":[{"id":"T2","span":{"begin":269,"end":274},"obj":"Body_part"}],"attributes":[{"id":"A2","pred":"uberon_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/UBERON_0000473"},{"subj":"T2","pred":"source","obj":"testtesttest"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"MyTest","color":"#ec9c93","default":true},{"id":"0_colil","color":"#93a3ec"},{"id":"2_test","color":"#bdec93"},{"id":"testtesttest","color":"#ec93d7"}]}]}}