Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene

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• 作者：Eugé ; nia Pinto^a ; Joel Freitas^b ; Ana Joana Duarte^a ; Isaura Ribeiro^a ; Diogo Ribeiro^a ; J. Lopes Lima^b ; Joã ; o Chaves^b ; Olga Amaral^a ; ^{olga.amaral@insa.mi-saude.pt} ; ^{olgaamaral@hotmail.com}
• 关键词：Cystatin B mutation ; Progressive myoclonus epilepsy ; Unverricht&ndash ; Lundborg ; Silent mutation ; Splice mutation
• 刊名：Epilepsy Research
• 出版年：2012
• 期刊代码：87_09201211
• 类别：med
• 出版时间：March, 2012
• 卷：99
• 期：1-2
• 页码：187-190
• 文件大小：248 K

摘要

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Summary

Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.