A recurrent homozygous NHLRC1 variant in siblings with Lafora disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-07-12

AUTHORS

Nami Araya, Yukitoshi Takahashi, Masayuki Shimono, Tomofumi Fukuda, Mitsuhiro Kato, Mitsuko Nakashima, Naomichi Matsumoto, Hirotomo Saitsu

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. More... »

PAGES

16

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0015-9

DOI

http://dx.doi.org/10.1038/s41439-018-0015-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1105485393

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30083360


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