| Literature DB >> 21371719 |
H Mrabet Khiari1, G Lesca, A Malafosse, A Mrabet.
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.Entities:
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Year: 2011 PMID： 21371719 DOI： 10.1016/j.jns.2011.02.011
Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181