Cited 2 times in
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea
DC Field | Value | Language |
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dc.contributor.author | 박찬욱 | - |
dc.contributor.author | 허경 | - |
dc.date.accessioned | 2018-09-28T08:50:25Z | - |
dc.date.available | 2018-09-28T08:50:25Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/163136 | - |
dc.description.abstract | Unverricht-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.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Yonsei University | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Anticonvulsants/administration & dosage | - |
dc.subject.MESH | Anticonvulsants/therapeutic use | - |
dc.subject.MESH | Blotting, Southern | - |
dc.subject.MESH | Cystatin B/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Predisposition to Disease | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Isoxazoles/administration & dosage | - |
dc.subject.MESH | Isoxazoles/therapeutic use | - |
dc.subject.MESH | Piracetam/administration & dosage | - |
dc.subject.MESH | Piracetam/analogs & derivatives | - |
dc.subject.MESH | Piracetam/therapeutic use | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Seizures/physiopathology* | - |
dc.subject.MESH | Treatment Outcome | - |
dc.subject.MESH | Unverricht-Lundborg Syndrome/diagnosis* | - |
dc.subject.MESH | Unverricht-Lundborg Syndrome/drug therapy | - |
dc.subject.MESH | Unverricht-Lundborg Syndrome/genetics* | - |
dc.subject.MESH | Valproic Acid/administration & dosage | - |
dc.subject.MESH | Valproic Acid/therapeutic use | - |
dc.title | First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Neurology | - |
dc.contributor.googleauthor | Ki Hoon Kim | - |
dc.contributor.googleauthor | Ju Sun Song | - |
dc.contributor.googleauthor | Chan Wook Park | - |
dc.contributor.googleauthor | Chang-Seok Ki | - |
dc.contributor.googleauthor | Kyoung Heo | - |
dc.identifier.doi | 10.3349/ymj.2018.59.6.798 | - |
dc.contributor.localId | A04341 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 29978618 | - |
dc.subject.keyword | Progressive myoclonic epilepsy | - |
dc.subject.keyword | Southern blot | - |
dc.subject.keyword | Unverricht-Lundborg disease | - |
dc.contributor.alternativeName | Park, Chan Wook | - |
dc.contributor.alternativeName | Heo, Kyoung | - |
dc.contributor.affiliatedAuthor | Heo, Kyoung | - |
dc.citation.volume | 59 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 798 | - |
dc.citation.endPage | 800 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.59(6) : 798-800, 2018 | - |
dc.identifier.rimsid | 58407 | - |
dc.type.rims | ART | - |
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