%0 Journal Article
%T A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0015-9
%X 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
%U https://www.nature.com/articles/s41439-018-0015-9