{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:03:22Z","timestamp":1791857002645,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,4,14]],"date-time":"2014-04-14T00:00:00Z","timestamp":1397433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:p>\n                    We recently identified\n                    <jats:italic>DEPDC5<\/jats:italic>\n                    as the gene for familial focal epilepsy with variable foci and found mutations in &gt;10% of small families with nonlesional focal epilepsy. Here we show that\n                    <jats:italic>DEPDC5<\/jats:italic>\n                    mutations are associated with both lesional and nonlesional epilepsies, even within the same family.\n                    <jats:italic>DEPDC5<\/jats:italic>\n                    \u2010associated malformations include bottom\u2010of\u2010the\u2010sulcus dysplasia (3 members from 2 families), and focal band heterotopia (1 individual). DEPDC5 negatively regulates the mammalian target of rapamycin (mTOR) pathway, which plays a key role in cell growth. The clinicoradiological phenotypes associated with\n                    <jats:italic>DEPDC5<\/jats:italic>\n                    mutations share features with the archetypal mTORopathy, tuberous sclerosis, raising the possibility of therapies targeted to this pathway. Ann Neurol 2014;75:782\u2013787\n                  <\/jats:p>","DOI":"10.1002\/ana.24126","type":"journal-article","created":{"date-parts":[[2014,3,3]],"date-time":"2014-03-03T04:34:49Z","timestamp":1393821289000},"page":"782-787","source":"Crossref","is-referenced-by-count":216,"title":["Mutations in mammalian target of rapamycin regulator\n                    <i>DEPDC5<\/i>\n                    cause focal epilepsy with brain malformations"],"prefix":"10.1002","volume":"75","author":[{"given":"Ingrid E.","family":"Scheffer","sequence":"first","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Melbourne Australia"},{"name":"Florey Institute of Neuroscience and Mental Health Melbourne Australia"},{"name":"Department of Paediatrics University of Melbourne Royal Children's Hospital Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Heron","sequence":"additional","affiliation":[{"name":"Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide Australia"},{"name":"Sansom Institute for Health Research, University of South Australia Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigid M.","family":"Regan","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Mandelstam","sequence":"additional","affiliation":[{"name":"Florey Institute of Neuroscience and Mental Health Melbourne Australia"},{"name":"Department of Paediatrics University of Melbourne Royal Children's Hospital Melbourne Australia"},{"name":"Department of Radiology University of Melbourne Royal Children's Hospital Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas E.","family":"Crompton","sequence":"additional","affiliation":[{"name":"Department of Neurology Northern Health Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bree L.","family":"Hodgson","sequence":"additional","affiliation":[{"name":"Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide Australia"},{"name":"Sansom Institute for Health Research, University of South Australia Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Licchetta","sequence":"additional","affiliation":[{"name":"IRCCS, Institute of Neurological Science, University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Provini","sequence":"additional","affiliation":[{"name":"IRCCS, Institute of Neurological Science, University of Bologna Bologna Italy"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Bisulli","sequence":"additional","affiliation":[{"name":"IRCCS, Institute of Neurological Science, University of Bologna Bologna Italy"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lata","family":"Vadlamudi","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Melbourne Australia"},{"name":"School of Medicine, University of Queensland and Department of Neurology Royal Brisbane and Women's Hospital Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[{"name":"School of Paediatrics and Reproductive Health University of Adelaide Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Connelly","sequence":"additional","affiliation":[{"name":"Florey Institute of Neuroscience and Mental Health Melbourne Australia"},{"name":"Department of Medicine Austin Health, University of Melbourne Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Tinuper","sequence":"additional","affiliation":[{"name":"IRCCS, Institute of Neurological Science, University of Bologna Bologna Italy"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G.","family":"Ricos","sequence":"additional","affiliation":[{"name":"Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide Australia"},{"name":"Sansom Institute for Health Research, University of South Australia Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne M.","family":"Dibbens","sequence":"additional","affiliation":[{"name":"Epilepsy Research Program School of Pharmacy and Medical Sciences University of South Australia Adelaide Australia"},{"name":"Sansom Institute for Health Research, University of South Australia Adelaide 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