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- 2018
A recurrent homozygous NHLRC1 variant in siblings with Lafora diseaseDOI: https://doi.org/10.1038/s41439-018-0015-9 Abstract: 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 NHLRC1 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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