Lafora progressive myoclonus epilepsy: Disease course homogeneity in a genetic isolate

Julie Turnbull, Santosh Kumar, Zhi Ping Ren, Shanmugakonar Muralitharan, Taline Naranian, Cameron A. Ackerley, Berge A. Minassian

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)240-242
Number of pages3
JournalJournal of child neurology
Volume23
Issue number2
DOIs
StatePublished - Feb 1 2008

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Keywords

  • Founder effect
  • Lafora disease
  • Myoclonic epilepsies

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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