Search Results - "Solazzi, Roberta"

Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1 -related drug-resistant focal epilepsy by Mosca, Ilaria, Freri, Elena, Ambrosino, Paolo, Belperio, Giorgio, Granata, Tiziana, Canafoglia, Laura, Ragona, Francesca, Solazzi, Roberta, Filareto, Ilaria, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, DiFrancesco, Jacopo C, Soldovieri, Maria Virginia, Taglialatela, Maurizio

“…Variants in are associated with a wide spectrum of epileptic phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), non-EIMFS…”
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HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature by DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D’Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, Gellera, Cinzia

“…•Different mutations of the HCN channels can predispose to the development of epilepsy.•HCN1 mutations account for the majority of patients, but also the…”
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Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach by Castellotti, Barbara, Ragona, Francesca, Freri, Elena, Messina, Giuliana, Magri, Stefania, Previtali, Roberto, Solazzi, Roberta, Franceschetti, Silvana, Taroni, Franco, Canafoglia, Laura, Gellera, Cinzia, Granata, Tiziana, DiFrancesco, Jacopo C.

“…Objective The objective of this study is to report the results of the genetic analysis in a large and well‐characterized population with pediatric‐onset…”
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Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome by Solazzi, Roberta, Nanni, Giuliana, Esposito, Silvia, Estienne, Margherita, Freri, Elena, Zibordi, Federica, Canafoglia, Laura, Castellotti, Barbara, Granata, Tiziana

“…Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism…”
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A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: “Precision medicine” approach with fluoxetine by Ambrosino, Paolo, Ragona, Francesca, Mosca, Ilaria, Vannicola, Chiara, Canafoglia, Laura, Solazzi, Roberta, Rivolta, Ilaria, Freri, Elena, Granata, Tiziana, Messina, Giuliana, Castellotti, Barbara, Gellera, Cinzia, Soldovieri, Maria Virginia, DiFrancesco, Jacopo Cosimo, Taglialatela, Maurizio

“…Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation,…”
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Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant by Freri, Elena, Canafoglia, Laura, Ciaccio, Claudia, Rossi Sebastiano, Davide, Caputo, Davide, Solazzi, Roberta, Sciacca, Francesca L., Iascone, Maria, Panzica, Ferruccio, Granata, Tiziana, Franceschetti, Silvana, Nardocci, Nardo

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CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome by Specchio, Nicola, Trivisano, Marina, Lenge, Matteo, Ferretti, Alessandro, Mei, Davide, Parrini, Elena, Napolitano, Antonio, Rossi-Espagnet, Camilla, Talenti, Giacomo, Longo, Daniela, Proietti, Jacopo, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, Granata, Tiziana, Darra, Francesca, Bernardina, Bernardo Dalla, Vigevano, Federico, Guerrini, Renzo

“…Abstract The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been…”
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CDKL5 deficiency disorder in males: Five new variants and review of the literature by Siri, Barbara, Varesio, Costanza, Freri, Elena, Darra, Francesca, Gana, Simone, Mei, Davide, Porta, Francesco, Fontana, Elena, Galati, Giulia, Solazzi, Roberta, Niceta, Marcello, Veggiotti, Pierangelo, Alfei, Enrico

“…The X-linked Cyclin-Dependent Kinase-Like 5 (CDKL5) gene encodes a serine-threonine kinase highly expressed in the developing brain. Loss of function of CDKL5…”
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SYNGAP1-DEE: A visual sensitive epilepsy by Lo Barco, Tommaso, Kaminska, Anna, Solazzi, Roberta, Cancés, Claude, Barcia, Giulia, Chemaly, Nicole, Fontana, Elena, Desguerre, Isabelle, Canafoglia, Laura, Hachon Le Camus, Caroline, Losito, Emma, Villard, Laurent, Eisermann, Monika, Dalla Bernardina, Bernardo, Villeneuve, Nathalie, Nabbout, Rima

“…•We analyzed 72 EEGs from 15 unreported individuals exhibiting developmental encephalopathy with pathogenic SYNGAP1 variants.•72% of awake seizures occurred at…”
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Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes by Castellotti, Barbara, Ragona, Francesca, Freri, Elena, Solazzi, Roberta, Ciardullo, Stefano, Tricomi, Giovanni, Venerando, Anna, Salis, Barbara, Canafoglia, Laura, Villani, Flavio, Franceschetti, Silvana, Nardocci, Nardo, Gellera, Cinzia, DiFrancesco, Jacopo C., Granata, Tiziana

“…Glucose transporter type 1 deficiency syndrome (Glut1 DS) is a rare neurological disorder caused by impaired glucose delivery to the brain. The clinical…”
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A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet by DiFrancesco, Jacopo C., Ragona, Francesca, Murano, Carmen, Frosio, Anthony, Melgari, Dario, Binda, Anna, Calamaio, Serena, Prevostini, Rachele, Mauri, Mario, Canafoglia, Laura, Castellotti, Barbara, Messina, Giuliana, Gellera, Cinzia, Previtali, Roberto, Veggiotti, Pierangelo, Milanesi, Raffaella, Barbuti, Andrea, Solazzi, Roberta, Freri, Elena, Granata, Tiziana, Rivolta, Ilaria

“…Missense variants of hyperpolarization‐activated, cyclic nucleotide‐gated (HCN) ion channels cause variable phenotypes, ranging from mild generalized epilepsy…”
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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy by Vetri, Luigi, Calì, Francesco, Vinci, Mirella, Amato, Carmelo, Roccella, Michele, Granata, Tiziana, Freri, Elena, Solazzi, Roberta, Romano, Valentino, Elia, Maurizio

“…An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium…”
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Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol by Freri, Elena, Castellotti, Barbara, Canafoglia, Laura, Ragona, Francesca, Solazzi, Roberta, Vannicola, Chiara, Magri, Stefania, Messina, Giuliana, D'Arrigo, Stefano, Gellera, Cinzia, DiFrancesco, Jacopo C., Granata, Tiziana

“…•Non-sense heterozygous compound mutations of the CNTNAP2 gene can cause Pitt-Hopkins-like syndrome with severe epileptic phenotype.•Pharmacoresistant focal…”
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Relapse risk factors in anti‐N‐methyl‐D‐aspartate receptor encephalitis by Nosadini, Margherita, Granata, Tiziana, Matricardi, Sara, Freri, Elena, Ragona, Francesca, Papetti, Laura, Suppiej, Agnese, Valeriani, Massimiliano, Sartori, Stefano, Bonuccelli, Alice, Beccaria, Francesca, Buechner, Susanne, Buratti, Silvia, Cantalupo, Gaetano, Cappellari, Alberto, Casellato, Susanna, Cesaroni, Elisabetta, Cimaz, Rolando, Cordelli, Duccio Maria, Costa, Paola, Dell’Avvento, Silvia, Dilena, Robertino, Falsaperla, Raffaele, Foiadelli, Thomas, Frigo, Anna Chiara, Fusco, Lucia, Giacobbe, Antonella, Giannotta, Melania, Grazian, Luisa, Maggio, Maria Cristina, Mancardi, Maria Margherita, Melis, Marta, Natali Sora, Maria Grazia, Orsini, Alessandro, Petruzzellis, Antonella, Pini, Antonella, Pruna, Dario, Santangelo, Giuseppe, Savasta, Salvatore, Scaduto, Maria Cristina, Serino, Domenico, Simula, Delia, Solazzi, Roberta, Sotgiu, Stefano, Splendiani, Alessandra, Toldo, Irene, Vigevano, Federico, Viri, Maurizio, Visconti, Paola, Zamponi, Nelia, Zanus, Caterina, Zoccarato, Marco, Zuliani, Luigi

“…Aim To identify factors that may predict and affect the risk of relapse in anti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis. Method This was a…”
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Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy by Carapancea, Evelina, Cornet, Marie-Coralie, Milh, Mathieu, De Cosmo, Lucrezia, Huang, Eric J., Granata, Tiziana, Striano, Pasquale, Ceulemans, Berten, Stein, Anja, Morris-Rosendahl, Deborah, Conti, Greta, Mitra, Nipa, Raymond, F. Lucy, Rowitch, David H., Solazzi, Roberta, Vercellino, Fabiana, De Liso, Paola, D'Onofrio, Gianluca, Boniver, Clementina, Danhaive, Olivier, Carkeek, Katherine, Salpietro, Vincenzo, Weckhuysen, Sarah, Fedrigo, Marny, Angelini, Annalisa, Castellotti, Barbara, Lederer, Damien, Benoit, Valerie, Raviglione, Federico, Guerrini, Renzo, Dilena, Robertino, Cilio, Maria Roberta

“…encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide…”
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Clinical and Neurophysiological Phenotypes in Neonates With BRAT1 Encephalopathy by Carapancea, Evelina, Cornet, Marie-Coralie, Milh, Mathieu, De Cosmo, Lucrezia, Huang, Eric J., Granata, Tiziana, Striano, Pasquale, Ceulemans, Berten, Stein, Anja, Morris-Rosendahl, Deborah, Conti, Greta, Mitra, Nipa, Raymond, F. Lucy, Rowitch, David H., Solazzi, Roberta, Vercellino, Fabiana, De Liso, Paola, D'Onofrio, Gianluca, Boniver, Clementina, Danhaive, Olivier, Carkeek, Katherine, Salpietro, Vincenzo, Weckhuysen, Sarah, Fedrigo, Marny, Angelini, Annalisa, Castellotti, Barbara, Lederer, Damien, Benoit, Valerie, Raviglione, Federico, Guerrini, Renzo, Dilena, Robertino, Cilio, Maria Roberta

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Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome by Solazzi, Roberta, Fiorini, Elena, Parrini, Elena, Guerrini, Renzo, Bernardina, Bernardo Dalla, Nardocci, Nardo, Cantalupo, Gaetano

“…PURA syndrome is a distinct form of developmental encephalopathy, characterized by early‐onset hypotonia, severe developmental delay, intellectual disability,…”
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Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B -Related Hypomyelinating Leukodystrophy by Solazzi, Roberta, Moscatelli, Marco, Sebastiano, Davide Rossi, Canafoglia, Laura, Pezzoli, Laura, Iascone, Maria, Granata, Tiziana

“…ObjectiveTo report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant…”
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Paroxysmal tonic upgaze in a child with SCN8A‐related encephalopathy by Solazzi, Roberta, Castellotti, Barbara, Canafoglia, Laura, Messina, Giuliana, Magri, Stefania, Freri, Elena, Ragona, Francesca, Franceschetti, Silvana, Di Francesco, Jacopo C., Gellera, Cinzia, Granata, Tiziana

“…Pathogenic variants in the SCN8A gene have been associated with a broad phenotypic spectrum, ranging from benign familial infantile seizures to severe,…”
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Gelastic seizures and “smiling spasms”: A peculiar ictal pattern by Lo Barco, Tommaso, Corona, Laura, Solazzi, Roberta, Fiorini, Elena, Galati, Giulia, Cossu, Alberto, Proietti, Jacopo, Francione, Stefano, Dalla Bernardina, Bernardo, Darra, Francesca, Cantalupo, Gaetano

“…Content available: Video…”
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