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Page 1
Genetics of epilepsy and relevance to current practice.
Michelucci R, Pasini E, Riguzzi P, Volpi L, Dazzo E, Nobile C. Michelucci R, et al. Among authors: dazzo e. Curr Neurol Neurosci Rep. 2012 Aug;12(4):445-55. doi: 10.1007/s11910-012-0281-8. Curr Neurol Neurosci Rep. 2012. PMID: 22618127 Review.
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A. Li Mura IE, et al. Among authors: dazzo e. Eur J Hum Genet. 2013 Nov;21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486541 Free PMC article.
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.
Michelucci R, Pasini E, Malacrida S, Striano P, Bonaventura CD, Pulitano P, Bisulli F, Egeo G, Santulli L, Sofia V, Gambardella A, Elia M, de Falco A, Neve Al, Banfi P, Coppola G, Avoni P, Binelli S, Boniver C, Pisano T, Marchini M, Dazzo E, Fanciulli M, Bartolini Y, Riguzzi P, Volpi L, de Falco FA, Giallonardo AT, Mecarelli O, Striano S, Tinuper P, Nobile C. Michelucci R, et al. Among authors: dazzo e. Epilepsia. 2013 Jul;54(7):1288-97. doi: 10.1111/epi.12194. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621105 Free article.
Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras.
Dazzo E, Santulli L, Posar A, Fattouch J, Conti S, Lodén-van Straaten M, Mijalkovic J, De Bortoli M, Rosa M, Millino C, Pacchioni B, Di Bonaventura C, Giallonardo AT, Striano S, Striano P, Parmeggiani A, Nobile C. Dazzo E, et al. Epilepsy Res. 2015 Feb;110:132-8. doi: 10.1016/j.eplepsyres.2014.12.004. Epub 2014 Dec 16. Epilepsy Res. 2015. PMID: 25616465
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C. Dazzo E, et al. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020. Am J Hum Genet. 2015. PMID: 26046367 Free PMC article.
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
Striano P, Serioli E, Santulli L, Manna I, Labate A, Dazzo E, Pasini E, Gambardella A, Michelucci R, Striano S, Nobile C. Striano P, et al. Among authors: dazzo e. Epilepsia. 2015 Oct;56(10):e168-71. doi: 10.1111/epi.13094. Epub 2015 Jul 27. Epilepsia. 2015. PMID: 26216793 Free article.
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.
Michelucci R, Pulitano P, Di Bonaventura C, Binelli S, Luisi C, Pasini E, Striano S, Striano P, Coppola G, La Neve A, Giallonardo AT, Mecarelli O, Serioli E, Dazzo E, Fanciulli M, Nobile C. Michelucci R, et al. Among authors: dazzo e. Epilepsy Behav. 2017 Mar;68:103-107. doi: 10.1016/j.yebeh.2016.12.003. Epub 2017 Jan 28. Epilepsy Behav. 2017. PMID: 28142128 Free PMC article.
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.
Leonardi E, Dazzo E, Aspromonte MC, Tabaro F, Pascarelli S, Tosatto SCE, Michelucci R, Murgia A, Nobile C. Leonardi E, et al. Among authors: dazzo e. Epilepsy Res. 2018 Jan;139:51-53. doi: 10.1016/j.eplepsyres.2017.11.006. Epub 2017 Nov 21. Epilepsy Res. 2018. PMID: 29179159
24 results