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

Khiari, H Mrabet
Lesca, G
Mrabet, A
Published in Journal of the neurological sciences. 2011, vol. 304, no. 1-2, p. 136-7
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.
Keywords AdolescentExons/geneticsFemaleHumansLafora Disease/diagnosis/geneticsMutation/geneticsProtein Tyrosine Phosphatases, Non-Receptor/geneticsTunisia
PMID: 21371719
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Research group Génétique psychiatrique (4)
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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. 136-7. doi: 10.1016/j.jns.2011.02.011 https://archive-ouverte.unige.ch/unige:25383

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Deposited on : 2013-01-11

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