"V体育平台登录" Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

Joe C Sim¹, Thomas Scerri^{2

3}, Miriam Fanjul-Fernández¹, Jessica R Riseley¹, Greta Gillies¹, Kate Pope¹, Hanna van Roozendaal⁴, Julian I Heng⁵, Simone A Mandelstam^{6

7

8}, George McGillivray¹, Duncan MacGregor⁹, Lakshminarayanan Kannan¹⁰, Wirginia Maixner^{11

12}, A Simon Harvey^{10

11

8}, David J Amor^{1

8}, Martin B Delatycki^{1

8

13}, Peter B Crino¹⁴, Melanie Bahlo^{2

3}, Paul J Lockhart^{1

8}, Richard J Leventer^{10

11

8}

Affiliations

¹ Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.
² Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.
³ Department of Medical Biology, The University of Melbourne, Melbourne, Australia.
⁴ VUMC School of Medical Sciences, Amsterdam, The Netherlands.
⁵ The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia.
⁶ The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.
⁷ University of Melbourne, Department of Radiology, Melbourne, Australia.
⁸ University of Melbourne, Department of Pediatrics, Melbourne, Australia.
⁹ Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia.
¹⁰ Department of Neurology, Royal Children's Hospital, Melbourne, Australia.
¹¹ Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.
¹² Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia.
¹³ Clinical Genetics, Austin Health, Melbourne, Australia.
¹⁴ Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA.

PMID: 26285051
DOI: 10.1002/ana.24502

Case Reports

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 (V体育安卓版)

Joe C Sim et al. Ann Neurol. 2016 Jan.

. 2016 Jan;79(1):132-7.

doi: 10.1002/ana.24502. Epub 2015 Dec 12.

Authors

Affiliations

¹ Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.
² Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.
³ Department of Medical Biology, The University of Melbourne, Melbourne, Australia.
⁴ VUMC School of Medical Sciences, Amsterdam, The Netherlands.
⁵ The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia.
⁶ The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.
⁷ University of Melbourne, Department of Radiology, Melbourne, Australia.
⁸ University of Melbourne, Department of Pediatrics, Melbourne, Australia.
⁹ Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia.
¹⁰ Department of Neurology, Royal Children's Hospital, Melbourne, Australia.
¹¹ Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.
¹² Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia.
¹³ Clinical Genetics, Austin Health, Melbourne, Australia.
¹⁴ Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA.

PMID: 26285051
DOI: 10.1002/ana.24502

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 VSports手机版. .

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"V体育平台登录" Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 (V体育安卓版)

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