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First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

DC FieldValueLanguage
dc.contributor.author박찬욱-
dc.contributor.author허경-
dc.contributor.author허경-
dc.date.accessioned2018-09-28T08:50:25Z-
dc.date.available2018-09-28T08:50:25Z-
dc.date.issued2018-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/163136-
dc.description.abstractUnverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments. We report the first case of a genetically confirmed patient with ULD in Korea.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageEnglish-
dc.publisherYonsei University-
dc.relation.isPartOfYONSEI MEDICAL JOURNAL-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHAnticonvulsants/administration & dosage-
dc.subject.MESHAnticonvulsants/therapeutic use-
dc.subject.MESHBlotting, Southern-
dc.subject.MESHCystatin B/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHHumans-
dc.subject.MESHIsoxazoles/administration & dosage-
dc.subject.MESHIsoxazoles/therapeutic use-
dc.subject.MESHPiracetam/administration & dosage-
dc.subject.MESHPiracetam/analogs & derivatives-
dc.subject.MESHPiracetam/therapeutic use-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHSeizures/physiopathology*-
dc.subject.MESHTreatment Outcome-
dc.subject.MESHUnverricht-Lundborg Syndrome/diagnosis*-
dc.subject.MESHUnverricht-Lundborg Syndrome/drug therapy-
dc.subject.MESHUnverricht-Lundborg Syndrome/genetics*-
dc.subject.MESHValproic Acid/administration & dosage-
dc.subject.MESHValproic Acid/therapeutic use-
dc.titleFirst Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Neurology-
dc.contributor.googleauthorKi Hoon Kim-
dc.contributor.googleauthorJu Sun Song-
dc.contributor.googleauthorChan Wook Park-
dc.contributor.googleauthorChang-Seok Ki-
dc.contributor.googleauthorKyoung Heo-
dc.identifier.doi10.3349/ymj.2018.59.6.798-
dc.contributor.localIdA04341-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid29978618-
dc.subject.keywordProgressive myoclonic epilepsy-
dc.subject.keywordSouthern blot-
dc.subject.keywordUnverricht-Lundborg disease-
dc.contributor.alternativeNamePark, Chan Wook-
dc.contributor.alternativeNameHeo, Kyoung-
dc.contributor.affiliatedAuthorHeo, Kyoung-
dc.citation.volume59-
dc.citation.number6-
dc.citation.startPage798-
dc.citation.endPage800-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.59(6) : 798-800, 2018-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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