We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043589 | PMC |
| http://dx.doi.org/10.1038/s41439-018-0015-9 | DOI Listing |
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