Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy

Author:

Ricos Michael G.123,Hodgson Bree L.123,Pippucci Tommaso45,Saidin Akzam6,Ong Yeh Sze123,Heron Sarah E.123,Licchetta Laura78,Bisulli Francesca78,Bayly Marta A.123,Hughes James9,Baldassari Sara45,Palombo Flavia45,Santucci Margherita78,Meletti Stefano10,Berkovic Samuel F.11,Rubboli Guido1213,Thomas Paul Q.9,Scheffer Ingrid E.111415,Tinuper Paolo78,Geoghegan Joel16,Schreiber Andreas W.916,Dibbens Leanne M.123,

Affiliation:

1. Epilepsy Research Program, School of Pharmacy and Medical Sciences; University of South Australia; Adelaide South Australia Australia

2. Sansom Institute for Health Research; University of South Australia; Adelaide South Australia Australia

3. Molecular Neurogenomics Research Laboratory, Centre for Cancer Biology; University of South Australia; Adelaide South Australia Australia

4. Medical Genetics Unit; Polyclinic Sant'Orsola-Malpighi University Hospital; Bologna Italy

5. Department of Medical and Surgical Sciences; University of Bologna; Bologna Italy

6. Novocraft Technologies Sdn Bhd; Selangor Malaysia

7. IRCCS Istituto delle Scienze Neurologiche di Bologna; Bologna Italy

8. Department of Biomedical and Neuromotor Sciences; University of Bologna; Bologna Italy

9. School of Biological Sciences; University of Adelaide; Adelaide South Australia Australia

10. Department of Biomedical, Metabolic and Neural Science; University of Modena and Reggio Emilia, AUSL Modena; Modena Italy

11. Epilepsy Research Centre, Department of Medicine; The University of Melbourne, Austin Health; Melbourne Victoria Australia

12. Danish Epilepsy Center; Filadelfia/University of Copenhagen; Dianalund Denmark

13. IRCCS Institute of Neurological Sciences, Neurology Unit; Bellaria Hospital; Bologna Italy

14. Florey Institute of Neuroscience and Mental Health; Melbourne Victoria Australia

15. Department of Paediatrics; The University of Melbourne, Royal Children's Hospital; Melbourne Victoria Australia

16. ACRF Cancer Genomics Facility, Centre for Cancer Biology; SA Pathology; Adelaide South Australia Australia

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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