Ontology highlight
ABSTRACT:
SUBMITTER: Araya N
PROVIDER: S-EPMC6043589 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Human genome variation 20180712
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 <i>NHLRC1</i> gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found. ...[more]