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Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

  1. Cristina Gomez-Abad1,
  2. Zaid Afawi2,
  3. Amos D. Korczyn2,3,
  4. Adel Misk4,
  5. Stavit A. Shalev5,
  6. Ronen Spiegel5,
  7. Tally Lerman-Sagie6,
  8. Dorit Lev6,
  9. Katherine L. Kron7,
  10. Pilar Gómez-Garre1,
  11. Jose M. Serratosa1,
  12. Samuel F. Berkovic7

Article first published online: 13 MAR 2007

DOI: 10.1111/j.1528-1167.2007.01004.x

Issue

Epilepsia

Epilepsia

Volume 48, Issue 5, pages 1011–1014, May 2007

Additional Information

How to Cite

Gomez-Abad, C., Afawi, Z., Korczyn, A. D., Misk, A., Shalev, S. A., Spiegel, R., Lerman-Sagie, T., Lev, D., Kron, K. L., Gómez-Garre, P., Serratosa, J. M. and Berkovic, S. F. (2007), Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation. Epilepsia, 48: 1011–1014. doi: 10.1111/j.1528-1167.2007.01004.x

Author Information

  1. 1

    Neurology Service, Fundación Jiménez Díaz, Madrid, Spain

  2. 2

    Department of Neurology, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv

  3. 3

    Sieratzki Chair of Neurology, Tel Aviv University, Ramat Aviv

  4. 4

    Department of Neurology, Shaare Zedek Medical Center, Jerusalem

  5. 5

    The Genetics Institute, Ha'Emek Medical Center, Afula, and the Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa

  6. 6

    Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel

  7. 7

    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Victoria, Australia

*Address correspondence and reprint requests to Dr. S.F. Berkovic at Epilepsy Research Centre, First Floor, Neurosciences Building, Repatriation Campus, Austin Health, Banksia Street, Heidelberg West, Victoria, Australia 3081. E-mail: s.berkovic@unimelb.edu.au

Publication History

  1. Issue published online: 13 MAR 2007
  2. Article first published online: 13 MAR 2007
  3. Accepted November 30, 2006.

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Keywords:

  • Lafora disease;
  • Epilepsy;
  • Founder effect

Summary: Purpose: We observed three apparently unrelated and geographically separate Arab families with Lafora disease in Israel and the Palestinian territories.

Methods: We clinically evaluated the families and analyzed their DNA for EPM2A mutations.

Results: Of seven individuals with Lafora disease, the clinical onset varied from 13 to 20 years. All three families shared the same novel homozygous deletion in EPM2A. Haplotype analysis around the deletion showed that the families shared a common homozygous haplotype. The boundaries of this haplotype varied between families and even within one family.

Conclusions: We conclude that considerable variability in the age at onset of Lafora disease can occur within families. Identical mutations can be associated with the classic adolescent presentation, as well as late-onset cases. Haplotype analysis suggests that this EPM2A mutation arose many generations previously, so it may be of importance for cases distributed more widely in the Middle East.

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