Search Results - "Mancardi, Maria Margherita"

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations by Striano, Pasquale, Mancardi, Maria Margherita, Biancheri, Roberta, Madia, Francesca, Gennaro, Elena, Paravidino, Roberta, Beccaria, Francesca, Capovilla, Giuseppe, Bernardina, Bernardo Dalla, Darra, Francesca, Elia, Maurizio, Giordano, Lucio, Gobbi, Giuseppe, Granata, Tiziana, Ragona, Francesca, Guerrini, Renzo, Marini, Carla, Mei, Davide, Longaretti, Francesca, Romeo, Antonino, Siri, Laura, Specchio, Nicola, Vigevano, Federico, Striano, Salvatore, Tortora, Fabio, Rossi, Andrea, Minetti, Carlo, Dravet, Charlotte, Gaggero, Roberto, Zara, Federico

“…Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype–phenotype correlations in severe myoclonic epilepsy of…”
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Severe Epilepsy in X‐Linked Creatine Transporter Defect (CRTR‐D) by Margherita Mancardi, Maria, Caruso, Ubaldo, Cristina Schiaffino, Maria, Giuseppina Baglietto, Maria, Rossi, Andrea, Maria Battaglia, Francesca, Sophi Salomons, Gajja, Jakobs, Cornelis, Zara, Federico, Veneselli, Edvige, Gaggero, Roberto

“…Disorders of creatine synthesis or its transporter resulting in neurological impairment with mental retardation and epilepsy have only been recognized in…”
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Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis by Cordani, Ramona, Micalizzi, Concetta, Giacomini, Thea, Gastaldi, Matteo, Franciotta, Diego, Fioredda, Francesca, Buratti, Silvia, Morana, Giovanni, Pirlo, Daniela, Renna, Salvatore, Castagnola, Elio, Risso, Marco, Lanteri, Paola, Vari, Maria Stella, Mancardi, Maria Margherita

“…Anti-N-methyl-d-aspartate receptor encephalitis is a central nervous system inflammatory autoimmune disease affecting adults and children. The use of first-…”
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Magnetic Resonance-Guided Laser Interstitial Thermal Therapy (MR-gLiTT) in Pediatric Epilepsy Surgery: State of the Art and Presentation of Giannina Gaslini Children's Hospital (Genoa, Italy) Series by Consales, Alessandro, Cognolato, Erica, Pacetti, Mattia, Mancardi, Maria Margherita, Tortora, Domenico, Di Perna, Giuseppe, Piatelli, Gianluca, Nobili, Lino

“…Magnetic resonance-guided laser interstitial thermal therapy (MR-gLiTT) is a novel minimally invasive treatment approach for drug-resistant focal epilepsy and…”
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GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders by Varesio, Costanza, De Giorgis, Valentina, Veggiotti, Pierangelo, Nardocci, Nardo, Granata, Tiziana, Ragona, Francesca, Pasca, Ludovica, Mensi, Martina Maria, Borgatti, Renato, Olivotto, Sara, Previtali, Roberto, Riva, Antonella, Mancardi, Maria Margherita, Striano, Pasquale, Cavallin, Mara, Guerrini, Renzo, Operto, Francesca Felicia, Pizzolato, Alice, Di Maulo, Ruggero, Martino, Fabiola, Lodi, Andrea, Marini, Carla

“…GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and…”
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Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis by Mancardi, Maria Margherita, Nesti, Claudia, Febbo, Francesca, Cordani, Ramona, Siri, Laura, Nobili, Lino, Lampugnani, Elisabetta, Giacomini, Thea, Granata, Tiziana, Marucci, Gianluca, Consales, Alessandro, Rossi, Andrea, Luria, Gianvittorio, Santorelli, Filippo Maria, Buratti, Silvia

“…Pathogenic variants in the dynamin 1 like gene are related to abnormal mitochondrial dynamics and distributions and are associated to variable clinical…”
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Partial monosomy Xq(Xq23 → qter) and trisomy 4p(4p15.33 → pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features by Bartocci, Arnaldo, Striano, Pasquale, Mancardi, Maria Margherita, Fichera, Marco, Castiglia, Lucia, Galesi, Ornella, Michelucci, Roberto, Elia, Maurizio

“…Abstract Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new…”
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De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum by Giacomini, Thea, Scala, Marcello, Nobile, Giulia, Severino, Mariasavina, Tortora, Domenico, Nobili, Lino, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Mancardi, Maria Margherita, Nigro, Vincenzo

“…Heterozygous POLR2A variants have been recently reported in patients with a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia…”
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Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project by Amadori, Elisabetta, Scala, Marcello, Cereda, Giulia Sofia, Vari, Maria Stella, Marchese, Francesca, Di Pisa, Veronica, Mancardi, Maria Margherita, Giacomini, Thea, Siri, Laura, Vercellino, Fabiana, Serino, Domenico, Orsini, Alessandro, Bonuccelli, Alice, Bagnasco, Irene, Papa, Amanda, Minetti, Carlo, Cordelli, Duccio Maria, Striano, Pasquale

“…Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile…”
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Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study by Fetta, Anna, Di Pisa, Veronica, Ruscelli, Martina, Soliani, Luca, Sperti, Giacomo, Ubertiello, Sara, Ricci, Emilia, Mainieri, Greta, Rocca, Alessandro, Mancardi, Maria Margherita, Giordano, Lucio, Pruna, Dario, Vignoli, Aglaia, Provini, Federica, Cordelli, Duccio Maria

“…Pallister-Killian syndrome (PKS) is a rare genetic disorder with multi-organ involvement caused by mosaic tetrasomy of chromosome 12p. Although many caregivers…”
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Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern by Prato, Giulia, De Grandis, Elisa, Mancardi, Maria Margherita, Cordani, Ramona, Giacomini, Thea, Pisciotta, Livia, Uccella, Sara, Severino, Mariasavina, Tortora, Domenico, Pavanello, Marco, Bertamino, Marta, Verrina, Enrico, Caridi, Gianluca, Di Rocco, Maja, Nobili, Lino

“…Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture…”
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Acute Neurological Presentation in Children With SARS-CoV-2 Infection by Riva, Antonella, Piccolo, Gianluca, Balletti, Federica, Binelli, Maria, Brolatti, Noemi, Verrotti, Alberto, Amadori, Elisabetta, Spalice, Alberto, Giacomini, Thea, Mancardi, Maria Margherita, Iannetti, Paola, Vari, Maria Stella, Piccotti, Emanuela, Striano, Pasquale, Brisca, Giacomo

“…In the pediatric population, the knowledge of the acute presentation of SARS-CoV-2 infection is mainly limited to small series and case reports, particularly…”
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The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome by Veneruso, Marco, Fiorillo, Chiara, Broda, Paolo, Baratto, Serena, Traverso, Monica, Donati, Alice, Savasta, Salvatore, Falsaperla, Raffaele, Mancardi, Maria Margherita, Pedemonte, Marina, Panicucci, Chiara, Piatelli, Gianluca, Pacetti, Mattia, Moscatelli, Andrea, Ramenghi, Luca Antonio, Nobili, Lino, Minetti, Carlo, Bruno, Claudio

“…The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The…”
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Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome by Lenci, Giovanna, Calevo, Maria Grazia, Gaggero, Roberto, Prato, Giulia, Pisciotta, Livia, De Grandis, Elisa, Mancardi, Maria Margherita, Baglietto, Maria Giuseppina, Vigano', Monica, Veneselli, Edvige

“…Epilepsy with continuous spike-waves during slow sleep syndrome (CSWSS) is characterized by various seizure types, a characteristic EEG pattern and…”
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A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome by Riva, Antonella, Nobile, Giulia, Giacomini, Thea, Ognibene, Marzia, Scala, Marcello, Balagura, Ganna, Madia, Francesca, Accogli, Andrea, Romano, Ferruccio, Tortora, Domenico, Severino, Mariasavina, Scudieri, Paolo, Baldassari, Simona, Musante, Ilaria, Uva, Paolo, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Capra, Valeria, Nobili, Lino, Striano, Pasquale, Mancardi, Maria Margherita, Zara, Federico, Iacomino, Michele

“…WOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic…”
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Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children by Uccella, Sara, Dr, Mancardi, Maria Margherita, Dr, Martinetti, Carola, Dr, Tortora, Domenico, Dr, Moretti, Marta, Capra, Valeria, Dr, Ravegnani, Marcello, Dr, Severino, Maria Savina, Dr

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Epilepsy associated with supratentorial brain tumors under 3 years of life by Gaggero, Roberto, Consales, Alessandro, Fazzini, Francesca, Mancardi, Maria Margherita, Baglietto, Maria Giuseppina, Nozza, Paolo, Rossi, Andrea, Pistorio, Angela, Tumolo, Miriam, Cama, Armando, Garrè, Maria Luisa, Striano, Pasquale

“…Summary Objective To investigate the clinical features and outcome of epilepsy in children under 3 years of age with supratentorial brain tumors. Methods…”
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Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations by Margherita Mancardi, Maria, Striano, Pasquale, Gennaro, Elena, Madia, Francesca, Paravidino, Roberta, Scapolan, Sara, Dalla Bernardina, Bernardo, Bertini, Enrico, Bianchi, Amedeo, Capovilla, Giuseppe, Darra, Francesca, Elia, Maurizio, Freri, Elena, Gobbi, Giuseppe, Granata, Tiziana, Guerrini, Renzo, Pantaleoni, Chiara, Parmeggiani, Antonia, Romeo, Antonino, Santucci, Margherita, Vecchi, Marilena, Veggiotti, Pierangelo, Vigevano, Federico, Pistorio, Angela, Gaggero, Roberto, Zara, Federico

“…Purpose: The role of the familial background in severe myoclonic epilepsy of infancy (SMEI) has been traditionally emphasized in literature, with 25–70% of the…”
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Familial epilepsy and developmental dysphasia: Description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci by Michelucci, Roberto, Scudellaro, Eva, Testoni, Stefania, Passarelli, Daniela, Riguzzi, Patrizia, Diani, Erica, Vazza, Giovanni, Vianello, Valeria, Scabar, Aldo, Mostacciuolo, Maria L, Volpi, Lilia, Rubboli, Guido, Pinardi, Federica, Mancardi, Maria Margherita, Tassinari, Carlo Alberto, Nobile, Carlo

“…Summary Purpose To describe a familial epileptic condition combining a peculiar electro-clinical pattern with developmental language dysfunction in a large…”
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A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis by Pantalone, Gloria, Mancardi, Maria Margherita, Rossi, Andrea, Romanelli, Roberta, Marasco, Elena, Carla, Marini

“…The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability,…”
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