Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/18583
Title: Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
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
EDate: 2015-12-12
Citation: 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: http://ahro.austin.org.au/austinjspui/handle/1/18583
DOI: 10.1002/ana.24502
PubMed URL: 26285051
Type: Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Appears in Collections:Journal articles

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