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

Khiari, H Mrabet; Lesca, G; Malafosse, Alain; Mrabet, A

doi:10.1016/j.jns.2011.02.011

Scientific article

Case report

Open access

English

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

ContributorsKhiari, H Mrabet; Lesca, G; Malafosse, Alain; Mrabet, A

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

Publication date2011

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

Adolescent
Exons/genetics
Female
Humans
Lafora Disease/diagnosis/genetics
Mutation/genetics
Protein Tyrosine Phosphatases, Non-Receptor/genetics
Tunisia

Affiliation

Faculté de médecine / Section de médecine clinique / Département de psychiatrie

Research group

Génétique psychiatrique (4)

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

Article (Published version)

Identifiers

PID : unige:25383
DOI : 10.1016/j.jns.2011.02.011
PMID : 21371719

ISSN of the journal0022-510X

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

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