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Updated: Jun 3, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel exon 3 mutation in a Tunisian patient with Lafora's disease
H Mrabet Khiari1, G Lesca, A Malafosse
1Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, Tunis 1006, Tunisia. helamrabet@yahoo.com
Abstract:
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.
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