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

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:304

Article

Khiari, H. Mrabet¹  Lesca, G.²  Malafosse, A.³  Mrabet, A.¹ 

[1] Charles Nicolle Hosp, Dept Neurol, Tunis 1006, Tunisia

[2] Hop Edouard Herriot, Serv Genet Mol & Clin, F-69437 Lyon 3, France

[3] Univ Hosp Geneva, Geneva, Switzerland

关键词: Lafora disease;    Progressive myoclonus;    Genetics;    EPM2A;   

DOI  :  10.1016/j.jns.2011.02.011

来源: Elsevier

【 摘 要 】

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. (c) 2011 Elsevier B.V. All rights reserved.

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