Výsledky vyhledávání - "Carmela Caccavale"

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome

Autor: Claudia Santoro, Pia Bernardo, Carmela Caccavale, Luigi Del Gaudio, Francesca Madia, Carmela Bravaccio, Antonietta Coppola, Maria Marino, Maria Pia Riccio, Salvatore Striano

Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c0d4679db90abe70dc3f8a656192472
http://hdl.handle.net/11591/416573

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17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome

Autor: Lia Santulli, Mario Cirillo, Federico Zara, Salvatore Striano, Luigi Del Gaudio, Monica Traverso, Francesca Madia, Carmela Caccavale, Pia Bernardo, Antonietta Coppola

The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818cafd03fd34b2b5ddf2e01eb32d827
http://hdl.handle.net/11588/722429

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Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy

Autor: Laura Licchetta, Marcello Esposito, Salvatore Striano, Francesca Bisulli, A Coppola, Simona Balestrini, Federico Zara, Lia Santulli, Leandro Provinciali, Claudia Cagnetti, Carmela Caccavale, Pasquale Striano, Carlo Minetti, Paolo Tinuper

Publikováno v: Epilepsybehavior : EB. 56

Objective The objective of this report was to assess the psychiatric comorbidity in a group of patients affected by autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME). Methods Reliable and validated psychodiagnostic scales including

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c764c50e0c34dfe8dfe45d0786a6436
https://pubmed.ncbi.nlm.nih.gov/26827300

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Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

Autor: Piernanda Vigliano, Luigi Del Gaudio, Monica Traverso, Federico Zara, Eleonora Di Gregorio, Carlo Minetti, Antonietta Coppola, Alfredo Brusco, Pasquale Striano, Lia Santulli, Carmela Caccavale, Irene Bagnasco, Salvatore Striano

Publikováno v: Epilepsia. 54(5)

15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders. Epilepsy appears to be a common feature and, specifically, the 15q13.3 microdeletion is found in about 1% of patients with idiopathic generalized epilepsy. Recent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d45f36992d82f167c5b0b73ad4adda4
https://pubmed.ncbi.nlm.nih.gov/23448223

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