Academic Journal
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea
| العنوان: | First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea |
|---|---|
| المساهمون: | College of Medicine, Dept. of Neurology, Ki Hoon Kim, Ju Sun Song, Chan Wook Park, Chang-Seok Ki, Kyoung Heo, Park, Chan Wook, Heo, Kyoung |
| بيانات النشر: | Yonsei University |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 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, Progressive myoclonic epilepsy, Southern blot, Unverricht-Lundborg disease |
| الوصف: | 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. ; open |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 0513-5796 1976-2437 |
| Relation: | YONSEI MEDICAL JOURNAL; J02813; OAK-2018-03213; https://ir.ymlib.yonsei.ac.kr/handle/22282913/163136; T201802209; YONSEI MEDICAL JOURNAL, Vol.59(6) : 798-800, 2018; 58407 |
| DOI: | 10.3349/ymj.2018.59.6.798 |
| الاتاحة: | https://ir.ymlib.yonsei.ac.kr/handle/22282913/163136 https://doi.org/10.3349/ymj.2018.59.6.798 |
| Rights: | CC BY-NC-ND 2.0 KR ; https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ |
| رقم الانضمام: | edsbas.A6ECEBA7 |
| قاعدة البيانات: | BASE |
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