Search Results - "QUINTILIANI, MICHELA"

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study by Specchio, Nicola, Pietrafusa, Nicola, Doccini, Viola, Trivisano, Marina, Darra, Francesca, Ragona, Francesca, Cossu, Alberto, Spolverato, Silvia, Battaglia, Domenica, Quintiliani, Michela, Luigia Gambardella, Maria, Rosati, Anna, Mei, Davide, Granata, Tiziana, Dalla Bernardina, Bernardo, Vigevano, Federico, Guerrini, Renzo

“…Objective Dravet syndrome (DS) is a drug‐resistant, infantile onset epilepsy syndrome with multiple seizure types and developmental delay. In recently…”
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Application of the Sleep Disturbance Scale for Children (SDSC) in preschool age by Romeo, Domenico M, Bruni, Oliviero, Brogna, Claudia, Ferri, Raffaele, Galluccio, Carmen, De Clemente, Valentina, Di Jorio, Monica, Quintiliani, Michela, Ricci, Daniela, Mercuri, Eugenio

“…Abstract Background The Sleep Disturbance Scale for Children (SDSC) was originally validated on a sample of healthy children aged 6–16 years, investigating the…”
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Cortical Visual Impairment in CDKL5 Deficiency Disorder by Quintiliani, Michela, Ricci, Daniela, Petrianni, Maria, Leone, Simona, Orazi, Lorenzo, Amore, Filippo, Gambardella, Maria Luigia, Contaldo, Ilaria, Veredice, Chiara, Perulli, Marco, Musto, Elisa, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata

“…CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual…”
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Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology by Musto, Elisa, Gambardella, Maria Luigia, Perulli, Marco, Quintiliani, Michela, Veredice, Chiara, Verdolotti, Tommaso, Berté, Giovanna, Leoni, Chiara, Onesimo, Roberta, Pulitanò, Silvia Maria, Tartaglia, Marco, Zampino, Giuseppe, Contaldo, Ilaria, Battaglia, Domenica Immacolata

“…Cardio-facio-cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the…”
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Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report by Sprovieri, Teresa, Ungaro, Carmine, Sivo, Serena, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Citrigno, Luigi, Muglia, Maria, Cavalcanti, Francesca, Cavallaro, Sebastiano, Mercuri, Eugenio, Battaglia, Domenica

“…Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory,…”
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Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation by Perulli, Marco, Cicala, Gianpaolo, Turrini, Ida, Musto, Elisa, Quintiliani, Michela, Gambardella, Maria Luigia, Pulitanò, Silvia Maria, Bompard, Sarah, Staccioli, Susanna, Carmillo, Laura, Di Sante, Gabriele, Ria, Francesco, Veredice, Chiara, Contaldo, Ilaria, Battaglia, Domenica

“…•Early recognition of FIRES is key to provide possibly disease-modifying therapies.•Serum IL-1RA dosage may help to support treatment intensification.•Anakinra…”
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Short- vs long-term assessment of heart rate variability: Clinical significance in Dravet Syndrome by Perulli, Marco, Scala, Irene, Venditti, Romina, Amadio, Antonio, Luigia Gambardella, Maria, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Della Marca, Giacomo, Brunetti, Valerio, Battaglia, Domenica Immacolata

“…Heart rate variability (HRV) is a promising prognostic biomarker in Dravet Syndrome (DS), but different studies are not always comparable, limiting its…”
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Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress by Porto, Chiara, Perulli, Marco, Arpaia, Chiara, Villa, Marianna, Arcangeli, Valentina, Quintiliani, Michela, Gambardella, Maria Luigia, Brando, Carolina, Contaldo, Ilaria, Veredice, Chiara, Zaghi, Vania, Canepa, Giovanna, Borroni, Simona, Chieffo, Daniela Pia Rosaria, Battaglia, Domenica Immacolata

“…•Current rehabilitation practices are poorly defined in Dravet Syndrome.•This survey provides a comprehensive view of rehabilitation in Italy.•Speech therapy…”
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Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes by Ferraroli, Elisabetta, Perulli, Marco, Veredice, Chiara, Contaldo, Ilaria, Quintiliani, Michela, Ricci, Martina, Venezia, Ilaria, Citrigno, Luigi, Qualtieri, Antonio, Spadafora, Patrizia, Cavalcanti, Francesca, Battaglia, Domenica Immacolata

“…Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excessive startle…”
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Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy by Perulli, Marco, Picilli, Maria, Contaldo, Ilaria, Amenta, Simona, Gambardella, Maria Luigia, Quintiliani, Michela, Musto, Elisa, Turrini, Ida, Veredice, Chiara, Zollino, Marcella, Battaglia, Domenica Immacolata

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Role of high-density EEG (hdEEG) in pre-surgical epilepsy evaluation in children: case report and review of the literature by Quintiliani, Michela, Bianchi, Federico, Fuggetta, Filomena, Chieffo, Daniela Pia Rosaria, Ramaglia, Antonia, Battaglia, Domenica Immacolata, Tamburrini, Gianpiero

“…Introduction Electrical source imaging (ESI) and especially hdEEG represent a noninvasive, low cost and accurate method of localizing epileptic zone (EZ). Such…”
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Sleep disorders in children with cerebral palsy: neurodevelopmental and behavioral correlates by Romeo, Domenico M, Brogna, Claudia, Quintiliani, Michela, Baranello, Giovanni, Pagliano, Emanuela, Casalino, Tiziana, Sacco, Annalisa, Ricci, Daniela, Mallardi, Maria, Musto, Elisa, Sivo, Serena, Cota, Francesco, Battaglia, Domenica, Bruni, Oliviero, Mercuri, Eugenio

“…Highlights • We reported the frequency of sleep disorders in children with cerebral palsy (CP). • We used the Sleep Disturbance Scale for Children (SDSC), and…”
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Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk by Perulli, Marco, Battista, Andrea, Sivo, Serena, Turrini, Ida, Musto, Elisa, Quintiliani, Michela, Gambardella, Maria Luigia, Contaldo, Ilaria, Veredice, Chiara, Mercuri, Eugenio Maria, Lanza, Gaetano Antonio, Dravet, Charlotte, Delogu, Angelica Bibiana, Battaglia, Domenica Immacolata

“…•Patients with Dravet Syndrome display lower heart rate variability compared to healthy controls and patients different epilepsies.•Having a lower heart rate…”
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Early visual and neuro-development in preterm infants with and without retinopathy by Ricci, Daniela, Lucibello, Simona, Orazi, Lorenzo, Gallini, Francesca, Staccioli, Susanna, Serrao, Francesca, Olivieri, Giorgia, Quintiliani, Michela, Sivo, Serena, Rossi, Valeria, Leone, Daniela, Ferrantini, Gloria, Romeo, Domenico M., Frezza, Simonetta, Amorelli, Giulia Maria, Molle, Fernando, Vento, Giovanni, Lepore, Domenico, Mercuri, Eugenio

“…Retinopathy of prematurity (ROP) is often associated with visual impairment and multiple developmental disabilities. As most of the previous studies include…”
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Visual Function in Children with GNAO1-Related Encephalopathy by Gambardella, Maria Luigia, Pede, Elisa, Orazi, Lorenzo, Leone, Simona, Quintiliani, Michela, Amorelli, Giulia Maria, Petrianni, Maria, Galanti, Marta, Amore, Filippo, Musto, Elisa, Perulli, Marco, Contaldo, Ilaria, Veredice, Chiara, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata, Ricci, Daniela

“…GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G…”
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Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations by Battaglia, Domenica I, Gambardella, Maria Luigia, Veltri, Stefania, Contaldo, Ilaria, Chillemi, Giovanni, Veredice, Chiara, Quintiliani, Michela, Leoni, Chiara, Onesimo, Roberta, Verdolotti, Tommaso, Radio, Francesca Clementina, Martinelli, Diego, Trivisano, Marina, Specchio, Nicola, Dravet, Charlotte, Tartaglia, Marco, Zampino, Giuseppe

“…Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK)…”
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Sleep-potentiated epileptiform activity in early thalamic injuries: Study in a large series (60 cases) by Losito, Emma, Battaglia, Domenica, Chieffo, Daniela, Raponi, Matteo, Ranalli, Domiziana, Contaldo, Ilaria, Giansanti, Cristina, De Clemente, Valentina, Quintiliani, Michela, Antichi, Eleonora, Verdolotti, Tommaso, de Waure, Chiara, Tartaglione, Tommaso, Mercuri, Eugenio, Guzzetta, Francesco

“…Highlights • Infants with early thalamus injury may be considered at risk of presenting CSWS. • Discrete features seem to support different mechanisms…”
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Perceptual-motor abilities in pre-school preterm children by De Rose, Paola, Albamonte, Emilio, Laganà, Valentina, Sivo, Serena, Pisoni, Silvia, Gallini, Francesca, Serrao, Francesca, Tinelli, Francesca, Purpura, Giulia, Ometto, Alessandra, Sacco, Annalisa, Quintiliani, Michela, De Clemente, Valentina, Graziano, Alessandra, Romeo, Domenico M, Frezza, Simona, Papacci, Patrizia, Mosca, Fabio, Vicari, Stefano, Ramenghi, Luca A, Cioni, Giovanni, Romagnoli, Costantino, Mercuri, Eugenio, Ricci, Daniela

“…Abstract Background Several studies report a high percentage of premature infants presenting perceptual motor difficulties at school age. The new version of…”
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Early visual assessment in preterm infants with and without brain lesions: Correlation with visual and neurodevelopmental outcome at 12 months by Ricci, Daniela, Romeo, Domenico M, Gallini, Francesca, Groppo, Michela, Cesarini, Laura, Pisoni, Silvia, Serrao, Francesca, Papacci, Patrizia, Contaldo, Ilaria, Perrino, Francesca, Brogna, Claudia, Bianco, Flaviana, Baranello, Giovanni, Sacco, Annalisa, Quintiliani, Michela, Ometto, Alessandra, Cilauro, Salvatore, Mosca, Fabio, Romagnoli, Costantino, Romeo, Mario G, Cowan, Frances, Cioni, Giovanni, Ramenghi, Luca, Mercuri, Eugenio

“…Abstract Background Several studies have reported the development of various aspects of visual function in infancy and early childhood in both preterm and…”
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The forward parachute reaction and independent walking in infants with brain lesions: Forward Parachute Reaction in Children with Brain Lesions by ROMEO, DOMENICO M, RICCI, DANIELA, BARANELLO, GIOVANNI, PAGLIANO, EMANUELA, BROGNA, CLAUDIA, OLIVIERI, GIORGIA, CONTALDO, ILARIA, MAZZONE, DOMENICO, QUINTILIANI, MICHELA, TORRIOLI, MARIA GIULIA, ROMEO, MARIO G, MERCURI, EUGENIO

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