Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6016127 | Epilepsy Research | 2012 | 4 Pages |
Abstract
Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82H) and EPM2A (p.V7A) and two recurrent NHLRC1 (p.D146N) and EPM2A (p.R241X) mutations were identified in six families. The delineation of causative mutations in patients provided early disease diagnosis for other family members and contributed to the knowledge of LD pathogenesis.
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Authors
Seda Salar, Naz Yeni, AyÅegül Gündüz, AyÅe Güler, Ahmet Gökçay, Sibel VelioÄlu, Aslı GündoÄdu, S. Hande ÃaÄlayan,