Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for more information

CiteULike is a free service for managing and discovering scholarly references - click here to get started.

Sign In to gain access to subscriptions and/or personal tools.
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Turnbull, J.
Right arrow Articles by Minassian, B. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Turnbull, J.
Right arrow Articles by Minassian, B. A.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

Lafora Progressive Myoclonus Epilepsy: Disease Course Homogeneity in a Genetic Isolate

Julie Turnbull, BSc

Program in Genetics and Genome Biology

Santosh Kumar, MD

Department of Neurology, The Royal Hospital, Muscat, Oman

Zhi-Ping Ren, PhD

Program in Genetics and Genome Biology

Shanmugakonar Muralitharan, MSc

Department of Clinical Biochemistry, Sultan Qaboos University Hospital, Muscat, Oman

Taline Naranian

Program in Genetics and Genome Biology

Cameron A. Ackerley, PhD

Department of Pathology and Laboratory Medicine

Berge A. Minassian, MD

Division of Neurology, The Hospital for Sick Children, Toronto, Canada, bminass{at}sickkids.ca

Lafora epilepsy is characterized by starch formation in brain and skin and is diagnosed by skin biopsy or mutation detection. It has variable ages of onset (6-19 years) and death (18-32 years) even with the same mutation, likely due to extramutational factors. The authors identified 14 Lafora epilepsy patients in the genetic isolate of tribal Oman. The authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset (14 years) and death (21 years). Biopsy, on the other hand, was not homogeneous (positive in 4/5 patients) and is, therefore, less sensitive than mutation testing.

Key Words: Lafora disease • myoclonic epilepsies • founder effect

Journal of Child Neurology, Vol. 23, No. 2, 240-242 (2008)
DOI: 10.1177/0883073807309245
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?