Scientific article
Case report
Open access

A novel exon 3 mutation in a Tunisian patient with Lafora's disease

Published inJournal of the neurological sciences, vol. 304, no. 1-2, p. 136-137
Publication date2011

We report a Tunisian patient born from consanguineous marriage affected with progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel c.659 T>A mutation on exon 3 of the EPM2A gene, converting a leucine to a glutamine residue at amino acid position 220 (p.Leu220Gln), in the dual-specificity phosphatase domain.

  • Adolescent
  • Exons/genetics
  • Female
  • Humans
  • Lafora Disease/diagnosis/genetics
  • Mutation/genetics
  • Protein Tyrosine Phosphatases, Non-Receptor/genetics
  • Tunisia
Citation (ISO format)
KHIARI, H Mrabet et al. A novel exon 3 mutation in a Tunisian patient with Lafora’s disease. In: Journal of the neurological sciences, 2011, vol. 304, n° 1-2, p. 136–137. doi: 10.1016/j.jns.2011.02.011
Main files (1)
Article (Published version)
ISSN of the journal0022-510X

Technical informations

Creation11/28/2012 2:56:00 PM
First validation11/28/2012 2:56:00 PM
Update time03/14/2023 7:56:08 PM
Status update03/14/2023 7:56:08 PM
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