Genetics of focal epilepsies

Our goal is to elucidate the genetic bases of familial temporal lobe epilepsy syndromes. We search for causative genes and susceptibility variants using whole exome sequencing combined with SNP-array linkage analysis. Our laboratory is the national reference centre of the Genetics Commission of the Italian League Against Epilepsy (LICE) for collection of DNAs from families with these syndromes. We identified mutations causing autosomal dominant lateral temporal epilepsy (ADLTE) in LGI1, Reelin, and MICAL-1 genes. We investigate the molecular effects of mutations in these genes and the functional relationship between their protein products.



  • Carlo NOBILE - C.N.R. Senior Scientist

  Five recent publications

  1. P. Striano and C. Nobile: The genetic basis of juvenile myoclonic epilepsy. Lancet Neurology 17:493-495, 2018.
  2. E. Dazzo, K. Rehberg, R. Michelucci, D. Passarelli, C. Boniver, V. Vianello Dri, P. Striano, S. Striano, R.J. Pasterkamp, and C. Nobile. Mutations in MICAL-1 cause autosomal dominant lateral temporal epilepsy. Annals of Neurology 83:483-493, 2018.
  3. E. Dazzo, E. Leonardi, E. Belluzzi, S. Malacrida, L. Vitiello, E. Greggio, S.C.E. Tosatto and C. Nobile. Secretion-positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors. PLOS Genetics 12:e1006376, 2016.
  4. E. Dazzo, M. Fanciulli, E. Serioli, G. Minervini, P. Pulitano, S. Binelli, C. Di Bonaventura, C. Luisi, E. Pasini, S. Striano, P. Striano, G. Coppola, A. Chiavegato, S. Radovic, A. Spadotto, S. Uzzau, A. La Neve, A. T. Giallonardo, O. Mecarelli, S. C.E. Tosatto, R. Ottman, R. Michelucci, and C. Nobile. Heterozygous Reelin mutations cause autosomal dominant lateral temporal epilepsy. American Journal of Human Genetics 96:992-1000, 2015.
  5. M. Fanciulli, L. Santulli, L. Errichiello, C. Barozzi, L. Tomasi, L. Rigon, T. Cubeddu, Falco; A. Rampazzo, R. Michelucci, S. Uzzau, S. Striano, F. A. de Falco, P. Striano, and C.Nobile. LGI1 microdeletion in autosomal dominant lateral temporal epilepsy. Neurology 78:1299-1303 2012.