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Cited 44 times in

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

DC Field Value Language
dc.contributor.author강훈철-
dc.contributor.author김세희-
dc.contributor.author김흥동-
dc.contributor.author이승태-
dc.contributor.author이영목-
dc.contributor.author이준수-
dc.contributor.author최종락-
dc.date.accessioned2018-08-28T16:51:16Z-
dc.date.available2018-08-28T16:51:16Z-
dc.date.issued2018-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/162011-
dc.description.abstractBACKGROUND: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. METHODS: We assessed 74 patients with EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single nucleotide variants (SNVs) and exonic and chromosomal copy number variations (CNVs) were intensively examined with our customized pipeline and crosschecked with commercial or pre-built software. Variants were filtered and prioritized by in-depth clinical review, and finally classified according to the American College of Medical Genetics and Genomics guidelines. Each case was further discussed in a monthly consensus meeting that included the participation of all laboratory personnel, bioinformaticians, geneticists, and clinicians. RESULTS: The NGS panel identified 28 patients (37.8%) with genetic abnormalities; 25 patients had pathogenic or likely pathogenic SNVs in 17 genes including SXTBP1 (n = 3), CDKL5 (n = 2), KCNQ2 (n = 2), SCN1A (n = 2), SYNGAP1 (n = 2), GNAO1 (n = 2), KCNT1 (n = 2), BRAT1, WWOX, ZEB2, CHD2, PRICKLE2, COL4A1, DNM1, SCN8A, MECP2, SLC9A6 (n = 1). The other 3 patients had pathogenic CNVs (2 duplications and 1 deletion) with varying sizes (from 2.5 Mb to 12 Mb). The overall diagnostic yield was 37.8% after following our step-by-step approach for clinical consensus. CONCLUSIONS: NGS is a useful diagnostic tool with great utility for patients with EOE. Diagnostic yields can be maximized with a standardized and team-based approach.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherBioMed Central-
dc.relation.isPartOfBMC MEDICAL GENOMICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleEfficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pediatrics-
dc.contributor.googleauthorJohn Hoon Rim-
dc.contributor.googleauthorSe Hee Kim-
dc.contributor.googleauthorIn Sik Hwang-
dc.contributor.googleauthorSoon Sung Kwon-
dc.contributor.googleauthorJieun Kim-
dc.contributor.googleauthorHyun Woo Kim-
dc.contributor.googleauthorMin Jung Cho-
dc.contributor.googleauthorAra Ko-
dc.contributor.googleauthorSong Ee Youn-
dc.contributor.googleauthorJihun Kim-
dc.contributor.googleauthorYoung Mock Lee-
dc.contributor.googleauthorHee Jung Chung-
dc.contributor.googleauthorJoon Soo Lee-
dc.contributor.googleauthorHeung Dong Kim-
dc.contributor.googleauthorJong Rak Choi-
dc.contributor.googleauthorSeung-Tae Lee-
dc.contributor.googleauthorHoon-Chul Kang-
dc.identifier.doi10.1186/s12920-018-0320-7-
dc.contributor.localIdA00102-
dc.contributor.localIdA00611-
dc.contributor.localIdA01208-
dc.contributor.localIdA04627-
dc.contributor.localIdA02955-
dc.contributor.localIdA03177-
dc.contributor.localIdA04182-
dc.relation.journalcodeJ00362-
dc.identifier.eissn1755-8794-
dc.identifier.pmid29390993-
dc.subject.keywordDiagnostic yield-
dc.subject.keywordEarly-onset epilepsy-
dc.subject.keywordNext-generation sequencing-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.alternativeNameKim, Se Hee-
dc.contributor.alternativeNameKim, Heung Dong-
dc.contributor.alternativeNameLee, Seung-Tae-
dc.contributor.alternativeNameLee, Young Mock-
dc.contributor.alternativeNameLee, Joon Soo-
dc.contributor.alternativeNameChoi, Jong Rak-
dc.contributor.affiliatedAuthorKang, Hoon Chul-
dc.contributor.affiliatedAuthorKim, Se Hee-
dc.contributor.affiliatedAuthorKim, Heung Dong-
dc.contributor.affiliatedAuthorLee, Seung-Tae-
dc.contributor.affiliatedAuthorLee, Young Mock-
dc.contributor.affiliatedAuthorLee, Joon Soo-
dc.contributor.affiliatedAuthorChoi, Jong Rak-
dc.citation.volume11-
dc.citation.number1-
dc.citation.startPage6-
dc.identifier.bibliographicCitationBMC MEDICAL GENOMICS, Vol.11(1) : 6, 2018-
dc.identifier.rimsid59601-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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