Learn More
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(More)
OBJECTIVE The purpose of this study is to create an agraphia test battery specific to Turkish language, to obtain normative data for the performance and error types of this test and to demonstrate its success in detecting cognitive disorders in mild cognitive impairment (MCI) cases that can't be diagnosed by formal neuropsychological tests due to the fact(More)
  • 1