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

Authors
 Ki Hoon Kim  ;  Ju Sun Song  ;  Chan Wook Park  ;  Chang-Seok Ki  ;  Kyoung Heo 
Citation
 YONSEI MEDICAL JOURNAL, Vol.59(6) : 798-800, 2018 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2018
MeSH
Adult ; Anticonvulsants/administration & dosage ; Anticonvulsants/therapeutic use ; Blotting, Southern ; Cystatin B/genetics* ; Female ; Genetic Predisposition to Disease ; Humans ; Isoxazoles/administration & dosage ; Isoxazoles/therapeutic use ; Piracetam/administration & dosage ; Piracetam/analogs & derivatives ; Piracetam/therapeutic use ; Republic of Korea ; Seizures/physiopathology* ; Treatment Outcome ; Unverricht-Lundborg Syndrome/diagnosis* ; Unverricht-Lundborg Syndrome/drug therapy ; Unverricht-Lundborg Syndrome/genetics* ; Valproic Acid/administration & dosage ; Valproic Acid/therapeutic use
Keywords
Progressive myoclonic epilepsy ; Southern blot ; Unverricht-Lundborg disease
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.
Files in This Item:
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DOI
10.3349/ymj.2018.59.6.798
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Park, Chan Wook(박찬욱) ORCID logo https://orcid.org/0000-0002-0208-5189
Heo, Kyoung(허경)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/163136
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