Journal
ANNALS OF NEUROLOGY
Volume 79, Issue 1, Pages 132-137Publisher
WILEY-BLACKWELL
DOI: 10.1002/ana.24502
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Funding
- Victorian Government
- Australian Government NHMRC IRIISS
- National Health and Medical Research Council of Australia
- Murdoch Childrens Research Institute
- Campbell Edwards Trust
- NHMRC [APP1002098, APP1054618]
- NINDS [R01NS082343-01]
- Lefroy family
- Handbury family
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We describe first cousin sibling pairs with focal epilepsy, one of each pair having focal cortical dysplasia (FCD) IIa. Linkage analysis and whole-exome sequencing identified a heterozygous germline frameshift mutation in the gene encoding nitrogen permease regulator-like 3 (NPRL3). NPRL3 is a component of GAP Activity Towards Rags 1, a negative regulator of the mammalian target of rapamycin complex 1 signaling pathway. Immunostaining of resected brain tissue demonstrated mammalian target of rapamycin activation. Screening of 52 unrelated individuals with FCD identified 2 additional patients with FCDIIa and germline NPRL3 mutations. Similar to DEPDC5, NPRL3 mutations may be considered as causal variants in patients with FCD or magnetic resonance imaging-negative focal epilepsy.
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