Background: The homozygous missense mutation c.430G>T (p.G144W) in the gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated mutation has been reported.
Methods: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in and .
Results: A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) mutation. This is so far the oldest patient and her disease course seems overall milder.
Conclusions: This finding further highlights the gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.
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| http://dx.doi.org/10.1002/mdc3.12190 | DOI Listing |
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