Two Cases of Unverricht-Lundborg Disease with Mutation in the Gene Encoding Cystatin B-Reference-Cited by-同舟云学术

Two Cases of Unverricht-Lundborg Disease with Mutation in the Gene Encoding Cystatin B

Published:1998 Issue:2 Volume:16 Page:100-108
ISSN:0912-0890
Container-title:Journal of the Japan Epilepsy Society
language:en
Short-container-title:JJES

Author:

Wachi Manabu¹,Sasagawa Mutuo¹,Hasegawa Seiichi¹,Kanazawa Osamu²,Endo Kotaro³,Naito Haruhiko⁴,Oonuma Teiichi⁵,Nagamine Kentaro⁶,Kudoh Jun⁶,Shimizu Nobuyoshi⁶

Affiliation:

1. Division of Psychiatry, National Sanatorium Nishi-Niigata-Chuo Hospital

2. Division of Pediatrics, National Sanatorium Nishi-Niigata-Chuo Hospital

3. Division of Neurology, National Sanatorium Nishi-Niigata-Chuo Hospital

4. Division of Psychiatry, Matuhama Hospital

5. National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry Department of Molecular Biology, Keio University School of Medicine

6. Department of Molecular Biology, Keio University School of Medicine

Publisher

The Japan Epilepsy Society

Subject

Clinical Neurology,Neurology

Link

https://www.jstage.jst.go.jp/article/jjes1983/16/2/16_100/_pdf

Reference15 articles.

1. 1) Unverricht H. Die myoklonie. Franz Deuticke, Leipzig and Wien, 1981. Lundborg H (1903)

2. 2) Lundborg H. Die progressive Myoklonus-Epilepsie (Unverricht's Myoklonie). Almquist and Wiskel, Uppsala, 1903.

3. 3) Pennacchio LA, Lehesjoki A-E, Stone NE, Willour VL, Virtaneva K, Miao J, et al. Mutation in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Sience 1996; 271: 1731-1734.

4. 4) Lafreniere RG, Rochefort DL, Chretien N, Rom-mens JM, Cochius JI, Kalviainen R, et al. Unstable insertion in 5' flanking region of the cystatin B gene is the most common mutation in progressive myo-clonus epilepsy type 1, EPM1. Nat Genet 1997; 15: 298-302.

5. 5) Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, et al. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epi-lepsy. Nature 1997; 386: 847-851.

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2. Unverricht-Lundborg disease manifesting tremulous myoclonus with rare convulsive seizures: A case report;Rinsho Shinkeigaku;2009

3. Unverricht-Lundborg disease with cystatin B gene abnormalities;Pediatric Neurology;2002-01