Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Ricos MG 1 , Hodgson BL 1 , Pippucci T 2 , Saidin A 3 , Ong YS 1 , Heron SE 1 Show all authors , Licchetta L 4 , Bisulli F 4 , Bayly MA 1 , Hughes J 5 , Baldassari S 2 , Palombo F 2 , Epilepsy Electroclinical Study Group , Santucci M 4 , Meletti S 6 , Berkovic SF 7 , Rubboli G 8 , Thomas PQ 5 , Scheffer IE 7 , Tinuper P 4 , Geoghegan J 9 , Schreiber AW 5 , Dibbens LM 1

Affiliations 

  • 1 Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia
  • 2 Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi University Hospital, Bologna, Italy
  • 3 Novocraft Technologies Sdn Bhd, Selangor, Malaysia
  • 4 IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
  • 5 School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia
  • 6 Department of Biomedical, Metabolic and Neural Science, University of Modena and Reggio Emilia, AUSL Modena, Modena, Italy
  • 7 Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Victoria, Australia
  • 8 Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark
  • 9 ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia
Ann Neurol, 2016 Jan;79(1):120-31.
PMID: 26505888 DOI: 10.1002/ana.24547

Abstract

Focal epilepsies are the most common form observed and have not generally been considered to be genetic in origin. Recently, we identified mutations in DEPDC5 as a cause of familial focal epilepsy. In this study, we investigated whether mutations in the mammalian target of rapamycin (mTOR) regulators, NPRL2 and NPRL3, also contribute to cases of focal epilepsy.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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