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Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Lenge M, Balestrini S, Napolitano A, Mei D, Conti V, Baldassarri G, Trivisano M, Pellacani S, Macconi L, Longo D, Rossi Espagnet MC, Cappelletti S; PCDH19 Clinical Study Group; D'Incerti L, Barba C, Specchio N, Guerrini R. Lenge M, et al. Among authors: specchio n. Transl Psychiatry. 2024 Jan 18;14(1):35. doi: 10.1038/s41398-024-02753-x. Transl Psychiatry. 2024. PMID: 38238304 Free PMC article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: specchio n. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R. Marini C, et al. Among authors: specchio n. Neurology. 2010 Aug 17;75(7):646-53. doi: 10.1212/WNL.0b013e3181ed9e67. Neurology. 2010. PMID: 20713952
244 results