Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
- Author(s)
- Sim, JC; Scerri, T; Fanjul-Fernandez, M; Riseley, JR; Gillies, G; Pope, K; van Roozendaal, H; Heng, JI; Mandelstam, SA; McGillivray, G; MacGregor, D; Kannan, L; Maixner, W; Harvey, AS; Amor, DJ; Delatycki, MB; Crino, PB; Bahlo, M; Lockhart, PJ; Leventer, RJ;
- Details
- Publication Year 2015-08-18,Volume 79,Issue #1,Page 132-137
- Journal Title
- Ann Neurol
- Publication Type
- Journal Article
- Abstract
- 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 GATOR1, a negative regulator of the mTORC1 signaling pathway. Immunostaining of resected brain tissue demonstrated mTOR activation. Screening of 52 unrelated individuals with FCD identified two additional patients with FCDIIa and germline NPRL3 mutations. Similar to DEPDC5, NPRL3 mutations may be considered as causal variants in patients with FCD or MRI-negative focal epilepsy. This article is protected by copyright. All rights reserved.
- Publisher
- Wiley
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 26285051
- Publisher's Version
- https://doi.org/10.1002/ana.24502
- NHMRC Grants
- NHMRC/1002098, NHMRC/1054618,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2015-08-21 12:29:31
Last Modified: 2019-04-01 08:59:08