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Unusual presentation of Lafora's disease.

作者信息

Al Otaibi Suad F, Minassian Berge A, Ackerley Cameron A, Logan William J, Weiss Shelly

机构信息

Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario.

出版信息

J Child Neurol. 2003 Jul;18(7):499-501. doi: 10.1177/08830738030180070901.

DOI:10.1177/08830738030180070901
PMID:12940657
Abstract

Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy.

摘要

相似文献

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Unusual presentation of Lafora's disease.
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引用本文的文献

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Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.拉佛拉病小鼠模型的结构和功能脑异常。
Int J Mol Sci. 2020 Oct 20;21(20):7771. doi: 10.3390/ijms21207771.
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FDG-PET assessment and metabolic patterns in Lafora disease.拉福拉病的氟代脱氧葡萄糖正电子发射断层显像(FDG-PET)评估及代谢模式
Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1576-1584. doi: 10.1007/s00259-019-04647-3. Epub 2019 Dec 19.
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Lafora disease: epidemiology, pathophysiology and management.拉佛拉病:流行病学、病理生理学和治疗。
CNS Drugs. 2010 Jul;24(7):549-61. doi: 10.2165/11319250-000000000-00000.
4
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.NHLRC1基因突变是日本人群中拉福拉病的常见病因。
J Hum Genet. 2005;50(7):347-352. doi: 10.1007/s10038-005-0263-7. Epub 2005 Jul 15.