{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T15:23:56Z","timestamp":1782919436347,"version":"3.54.5"},"reference-count":45,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,1]],"date-time":"2020-07-01T00:00:00Z","timestamp":1593561600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Korea Ministry of Education","award":["NRF-2017R1D1A1B03034685"],"award-info":[{"award-number":["NRF-2017R1D1A1B03034685"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genetic testing is an emerging diagnostic approach in early\u2010onset epilepsy. Identification of the heterogeneous genetic causes of epilepsy may mitigate unnecessary evaluations and allow more accurate diagnosis and therapy. We aimed to uncover genetic causes of early\u2010onset epilepsy using next\u2010generation sequencing (NGS) to elucidate the diagnostic candidates and evaluate the diagnostic yield of targeted gene panel testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated 116 patients with early\u2010onset epilepsy developed before 2\u00a0years old and normal brain imaging using a NGS\u2010based targeted gene panel. Variants were classified according to their pathogenicity, and the diagnostic yield of the targeted genes and associated clinical factors were determined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We detected 40 disease\u2010causing variants with diagnostic yield of 34.5% (19 pathogenic, 21 likely pathogenic). Twelve variants were novel. The most commonly detected genes were <jats:italic>SCN1A<\/jats:italic>, associated with Dravet syndrome, and <jats:italic>PRRT2<\/jats:italic>, associated with benign familial infantile epilepsy. Other variants were identified in <jats:italic>ARX<\/jats:italic>, <jats:italic>SCN2A<\/jats:italic>, <jats:italic>KCNQ2<\/jats:italic>, <jats:italic>PCDH19<\/jats:italic>, <jats:italic>STXBP1<\/jats:italic>, <jats:italic>DEPDC5<\/jats:italic>, and <jats:italic>SCN8A<\/jats:italic>. The age of seizure onset and family history were associated with disease\u2010causing variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Next\u2010generation sequencing\u2010based targeted testing is an effective diagnostic test, with 30%\u201340% comparable diagnostic yield. Patients with earlier seizure onset and family history of epilepsy were the best candidates for testing. For pediatric patients with early\u2010onset epilepsy, genetic diagnosis is important for accurate prognosis and treatment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1376","type":"journal-article","created":{"date-parts":[[2020,7,2]],"date-time":"2020-07-02T05:26:00Z","timestamp":1593667560000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Determining the best candidates for next\u2010generation sequencing\u2010based gene panel for evaluation of early\u2010onset epilepsy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8456-684X","authenticated-orcid":false,"given":"Jiwon","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Samsung 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