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Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C, Darra F, Specchio N, Mei D, Terracciano A, Parmeggiani L, Ferrari A, Sicca F, Mastrangelo M, Spaccini L, Canopoli ML, Cesaroni E, Zamponi N, Caffi L, Ricciardelli P, Grosso S, Pisano T, Canevini MP, Granata T, Accorsi P, Battaglia D, Cusmai R, Vigevano F, Dalla Bernardina B, Guerrini R. Marini C, et al. Among authors: terracciano a. Epilepsia. 2012 Dec;53(12):2111-9. doi: 10.1111/j.1528-1167.2012.03649.x. Epub 2012 Sep 4. Epilepsia. 2012. PMID: 22946748 Free article.
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Bernardina BD, Bertini E, Guerrini R, Vigevano F. Specchio N, et al. Among authors: terracciano a. Epilepsia. 2011 Jul;52(7):1251-7. doi: 10.1111/j.1528-1167.2011.03063.x. Epub 2011 Apr 11. Epilepsia. 2011. PMID: 21480887 Free article.
PRRT2 is mutated in familial and non-familial benign infantile seizures.
Specchio N, Terracciano A, Trivisano M, Cappelletti S, Claps D, Travaglini L, Cusmai R, Marras CE, Zara F, Fusco L, Bertini E, Vigevano F. Specchio N, et al. Among authors: terracciano a. Eur J Paediatr Neurol. 2013 Jan;17(1):77-81. doi: 10.1016/j.ejpn.2012.07.006. Epub 2012 Aug 17. Eur J Paediatr Neurol. 2013. PMID: 22902423
Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.
Pontrelli G, Cappelletti S, Claps D, Sirleto P, Ciocca L, Petrocchi S, Terracciano A, Serino D, Fusco L, Vigevano F, Specchio N. Pontrelli G, et al. Among authors: terracciano a. Pediatr Neurol. 2014 May;50(5):530-5. doi: 10.1016/j.pediatrneurol.2014.01.022. Epub 2014 Jan 11. Pediatr Neurol. 2014. PMID: 24731847 Review.
Cognitive development in females with PCDH19 gene-related epilepsy.
Cappelletti S, Specchio N, Moavero R, Terracciano A, Trivisano M, Pontrelli G, Gentile S, Vigevano F, Cusmai R. Cappelletti S, et al. Among authors: terracciano a. Epilepsy Behav. 2015 Jan;42:36-40. doi: 10.1016/j.yebeh.2014.10.019. Epub 2014 Dec 11. Epilepsy Behav. 2015. PMID: 25499160
Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.
Compagnucci C, Petrini S, Higuraschi N, Trivisano M, Specchio N, Hirose S, Bertini E, Terracciano A. Compagnucci C, et al. Among authors: terracciano a. Oncotarget. 2015 Sep 29;6(29):26804-13. doi: 10.18632/oncotarget.5757. Oncotarget. 2015. PMID: 26450854 Free PMC article.
PCDH19-related epilepsy in two mosaic male patients.
Terracciano A, Trivisano M, Cusmai R, De Palma L, Fusco L, Compagnucci C, Bertini E, Vigevano F, Specchio N. Terracciano A, et al. Epilepsia. 2016 Mar;57(3):e51-5. doi: 10.1111/epi.13295. Epub 2016 Jan 14. Epilepsia. 2016. PMID: 26765483 Free article.
414 results