Article
Gaucher disease patient with myoclonus epilepsy and a novel mutation.
Pediatric neurology - 1 Jan 2010
Tajima Asako, Ohashi Toya, Hamano Shin-Ichiro, Higurashi Norimichi, Ida Hiroyuki
Abstract excerpt
The N188S mutation in Gaucher disease is associated with myoclonus epilepsy. We performed genetic analysis on a patient with progressive myoclonus epilepsy, who had received antiepileptic drugs for over 10 years. We detected N188S/G199D on the gene encoding glucocerebrosidase. Mutant proteins carrying each mutation were expressed in COS-1 cells (a commonly used cell line which derives from kidney cells of the...
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