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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… Click to show full 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.
Keywords:
lafora disease;
homozygous nhlrc1;
variant siblings;
nhlrc1 variant;
recurrent homozygous
Journal Title: Human Genome Variation
Year Published: 2018
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Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!