Search Results - "Butera, Ambra"

Neurotrophins: Expression of Brain-Lung Axis Development by Manti, Sara, Xerra, Federica, Spoto, Giulia, Butera, Ambra, Gitto, Eloisa, Di Rosa, Gabriella, Nicotera, Antonio Gennaro

“…Neurotrophins (NTs) are a group of soluble growth factors with analogous structures and functions, identified initially as critical mediators of neuronal…”
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Editorial: Neurodevelopment and preterm birth by Spoto, Giulia, Nicotera, Antonio Gennaro, Butera, Ambra, Di Rosa, Gabriella

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Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment by Spoto, Giulia, Ceraolo, Graziana, Butera, Ambra, Di Rosa, Gabriella, Nicotera, Antonio Gennaro

“…Chorea is a hyperkinetic movement disorder frequently observed in the pediatric population, and, due to advancements in genetic techniques, an increasing…”
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Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction by Spoto, Giulia, Valentini, Giulia, Saia, Maria Concetta, Butera, Ambra, Amore, Greta, Salpietro, Vincenzo, Nicotera, Antonio Gennaro, Di Rosa, Gabriella

“…The proper connection between the pre- and post-synaptic nervous cells depends on any element constituting the synapse: the pre- and post-synaptic membranes,…”
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Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review by Trivisano, Marina, Butera, Ambra, Quintavalle, Chiara, De Dominicis, Angela, Calabrese, Costanza, Cappelletti, Simona, Vigevano, Federico, Novelli, Antonio, Specchio, Nicola

“…Introduction SLC6A1 pathogenic variants have been associated with epilepsy and neurodevelopmental disorders. The clinical phenotype includes different seizure…”
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PHF21A Related Disorder: Description of a New Case by Butera, Ambra, Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Musumeci, Sebastiano Antonino, Vitello, Girolamo Aurelio, Musumeci, Antonino, Vinci, Mirella, Gloria, Angelo, Federico, Concetta, Saccone, Salvatore, Calì, Francesco

“…( ) gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST)…”
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KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review by Amore, Greta, Butera, Ambra, Spoto, Giulia, Valentini, Giulia, Saia, Maria Concetta, Salpietro, Vincenzo, Calì, Francesco, Di Rosa, Gabriella, Nicotera, Antonio Gennaro

“…Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with "Benign familial neonatal epilepsy" (BFNE). Amounting…”
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Comprehensive review of status gelasticus: Diagnostic challenges and therapeutic insights by Nicotera, Antonio Gennaro, Spoto, Giulia, Amore, Greta, Butera, Ambra, Di Rosa, Gabriella

“…•Status gelasticus, a rare form of status epilepticus, is linked to HH in 50% of cases.•Surgical treatment is effective in status gelasticus related to…”
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Fenfluramine below the age of 2 years in Dravet syndrome: What about safety and efficacy? by Pietrafusa, Nicola, Trivisano, Marina, Casellato, Susanna, Correale, Cinzia, Cappelletti, Simona, De Liso, Paola, Onida, Ilaria, Sotgiu, Stefano, Butera, Ambra, Specchio, Nicola, Vigevano, Federico

“…Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. Infants with DS are especially vulnerable to the detrimental effects of prolonged…”
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New Insights Into TRMT10A Syndrome: Case Report and Literature Review by Ceraolo, Graziana, Spoto, Giulia, Butera, Ambra, Spanò, Maria, Vinci, Mirella, Vitello, Girolamo Aurelio, Musumeci, Antonino, Calì, Francesco, Nicotera, Antonio Gennaro, Di Rosa, Gabriella

“…TRMT10A is related to a syndrome characterized by early-onset diabetes mellitus, microcephaly, epilepsy, and intellectual disability. We report a case of a…”
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Semi-Automatic Analysis of Specific Electroencephalographic Patterns during NREM2 Sleep in a Pediatric Population after SARS-CoV-2 Infection by Di Bella, Paolo, Attardi, Anna Gaia, Butera, Ambra, Mancini, Arianna, Calabrò, Nunzia, Lo Re, Elisa Giuseppa, Trimarchi, Giuseppe, Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Giudice, Daniela Lo

“…The post-COVID-19 condition is defined by the World Health Organization as the persistence of symptoms or development of new symptoms three months after the…”
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PHF21A Related Disorder: Description of a New Case by Butera, Ambra, Nicotera, Antonio Gennaro, Di Rosa, Gabriella, Musumeci, Sebastiano Antonino, Vitello, Girolamo Aurelio, Musumeci, Antonino, Vinci, Mirella, Gloria, Angelo, Federico, Concetta, Saccone, Salvatore, Calì, Francesco

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KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review by Amore, Greta, Butera, Ambra, Spoto, Giulia, Valentini, Giulia, Saia, Maria Concetta, Salpietro, Vincenzo, Calì, Francesco, Di Rosa, Gabriella, Nicotera, Antonio Gennaro

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