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https://ahro.austin.org.au/austinjspui/handle/1/18583| Title: | Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. | Austin Authors: | Sim, Joe C;Scerri, Thomas;Fanjul-Fernández, Miriam;Riseley, Jessica R;Gillies, Greta;Pope, Kate;van Roozendaal, Hanna;Heng, Julian I;Mandelstam, Simone A;McGillivray, George;MacGregor, Duncan;Kannan, Lakshminarayanan;Maixner, Wirginia;Harvey, A Simon;Amor, David J;Delatycki, Martin B ;Crino, Peter B;Bahlo, Melanie;Lockhart, Paul J;Leventer, Richard J | Affiliation: | Department of Medical Biology, The University of Melbourne, Melbourne, Australia Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia VUMC School of Medical Sciences, Amsterdam, The Netherlands The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia University of Melbourne, Department of Radiology, Melbourne, Australia University of Melbourne, Department of Pediatrics, Melbourne, Australia Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia Department of Neurology, Royal Children's Hospital, Melbourne, Australia Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia |
Issue Date: | Jan-2016 | Date: | 2015-12-12 | Publication information: | Annals of neurology 2016; 79(1): 132-7 | 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 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/18583 | DOI: | 10.1002/ana.24502 | Journal: | Annals of neurology | PubMed URL: | 26285051 | Type: | Journal Article |
| Appears in Collections: | Journal articles |
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