Literature DB >> 10668720

Identification of new and common mutations in the EPM2A gene in Lafora disease.

B A Minassian1, L Ianzano, A V Delgado-Escueta, S W Scherer.   

Abstract

Lafora disease is a teenage onset progressive myoclonus epilepsy caused by mutations in the EPM2A gene. In this report, we describe new mutations within EPM2A, review the known mutations to date to identify the most common, and describe three simple tests for prenatal and carrier screening.

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10668720     DOI： 10.1212/wnl.54.2.488

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  6 in total

Review 1.  Lafora disease: epidemiology, pathophysiology and management.

Authors:  Thomas S Monaghan; Norman Delanty
Journal:  CNS Drugs       Date:  2010-07       Impact factor: 5.749

2.  Glycogen metabolism in tissues from a mouse model of Lafora disease.

Authors:  Wei Wang; Hannes Lohi; Alexander V Skurat; Anna A DePaoli-Roach; Berge A Minassian; Peter J Roach
Journal:  Arch Biochem Biophys       Date:  2006-11-03       Impact factor: 4.013

3.  Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Authors:  Shweta Singh; Toshimitsu Suzuki; Akira Uchiyama; Satoko Kumada; Nobuko Moriyama; Shinichi Hirose; Yukitoshi Takahashi; Hideo Sugie; Koichi Mizoguchi; Yushi Inoue; Kazue Kimura; Yukio Sawaishi; Kazuhiro Yamakawa; Subramaniam Ganesh
Journal:  J Hum Genet       Date:  2005-07-15       Impact factor: 3.172

4.  Relationship between glycogen accumulation and the laforin dual specificity phosphatase.

Authors:  Wei Wang; Gretchen E Parker; Alexander V Skurat; Nina Raben; Anna A DePaoli-Roach; Peter J Roach
Journal:  Biochem Biophys Res Commun       Date:  2006-09-26       Impact factor: 3.575

5.  Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling.

Authors:  Madhu Ravi; Atilano Lacson; Margo Pybus; Mark C Ball
Journal:  Animals (Basel)       Date:  2022-06-25       Impact factor: 3.231

6.  EPM2A acts as a protective factor in prostate cancer, evidence from a real-world patient cohort.

Authors:  Qintao Ge; Jiawei Li; Junyue Tao; Rui Gao; Chen Jin; Jun Zhou; Meng Zhang; Zongyao Hao; Jialin Meng; Chaozhao Liang
Journal:  Front Pharmacol       Date:  2022-09-19       Impact factor: 5.988
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.