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2013 | 21 | 2 | 69-70

Article title

Speeding up disease diagnosis: a reliable option for the epileptologist?


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1 - 12 - 2013
1 - 3 - 2015


  • Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genoa, “G. Gaslini” Institute, Genova, Italy
  • Epilepsy Center, Department of Neurology, Federico II University, Napoli, Italy


  • Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J., Cook J. et al.:Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat. Genet., 2013, 45: 825–830.[Crossref]
  • Dravet C. and Oguni H.:Dravet syndrome (severe myoclonic epilepsy in infancy). Handb. Clin. Neurol., 2013, 111: 627–633.
  • Gennaro E., Santorelli F.M., Bertini E., Buti D., Gaggero R., Gobbi G. et al.:Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem. Biophys. Res. Commun., 2006, 341: 489–493.[Crossref]
  • Guerrini R., Striano P., Catarino C., Sisodiya S.M.:Neuroimaging and neuropathology of Dravet syndrome. Epilepsia, 2011, 52 (Suppl. 2): 30–34.[PubMed][Crossref]
  • Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C., Steiner I. et al.:Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, 2012, 53: 1387–1398[Crossref][PubMed]
  • Madia F., Striano P., Gennaro E., Malacarne M., Paravidino R., Biancheri R. et al.:Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology, 2006, 10: 1230–1235.
  • Mancardi M.M., Striano P., Gennaro E., Madia F., Paravidino R., Scapolan S. et al.:Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. Epilepsia, 2006, 47: 1629–1635.
  • Marini C., Scheffer I.E., Nabbout R., Mei D., Cox K., Dibbens L.M. et al.:SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia, 2009, 50: 1670–1678.[WoS][Crossref]
  • Nicita F., De Liso P., Danti F.R., Papetti L., Ursitti F., Castronovo A. et al.:The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. Seizure, 2012, 21: 3–11.[Crossref][PubMed][WoS]
  • Sugawara T., Yoshida S., Wada K., Hirose S., Kaneko S.:Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array. Journal of Epileptology, 2013, 21: 5–13.[Crossref]
  • Striano P., Mancardi M.M., Biancheri R., Madia F., Gennaro E., Paravidino R. et al.:Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. Epilepsia, 2007, 48: 1092–1096.[PubMed][Crossref][WoS]
  • Striano P., Striano S., Minetti C., Zara F.:Refractory, lifethreatening status epilepticus in a 3-year-old girl. Lancet Neurol., 2008, 7: 278–284.[WoS]
  • Striano P. and Zara F.:Genetic epilepsies. Eur. J. Paediatr. Neurol., 2011, 15: 88–89.

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