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Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review
Author / Creator:Trivisano, Marina ; Butera, Ambra ; Quintavalle, Chiara ; De Dominicis, Angela ; Calabrese, Costanza ; Cappelletti, Simona ; Vigevano, Federico ; Novelli, Antonio ; Specchio, Nicola
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in neuroscience, 2023-08, Vol.17, p.1215684
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A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy
Author / Creator:Kolc, Kristy L ; Sadleir, Lynette G ; Depienne Christel ; Marini, Carla ; Scheffer, Ingrid E ; Møller, Rikke S ; Trivisano Marina ; Specchio Nicola ; Pham Duyen ; Kumar, Raman ; Roberts, Rachel ; Gecz Jozef
Publisher:London: Nature Publishing Group
Journal title:Translational psychiatry, 2020-05, Vol.10 (1)
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Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis
Author / Creator:Petrillo, Sara ; Pietrafusa, Nicola ; Trivisano, Marina ; Calabrese, Costanza ; Saura, Francesca ; Gallo, Maria Giovanna ; Bertini, Enrico Silvio ; Vigevano, Federico ; Specchio, Nicola ; Piemonte, Fiorella
Publisher:Basel: MDPI AG
Journal title:Antioxidants, 2021-08, Vol.10 (8), p.1267
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Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy
Author / Creator:Lenge, Matteo ; Balestrini, Simona ; Napolitano, Antonio ; Mei, Davide ; Conti, Valerio ; Baldassarri, Giulia ; Trivisano, Marina ; Pellacani, Simona ; Macconi, Letizia ; Longo, Daniela ; Rossi Espagnet, Maria Camilla ; Cappelletti, Simona ; D’Incerti, Ludovico ; Barba, Carmen ; Specchio, Nicola ; Guerrini, Renzo
Publisher:London: Nature Publishing Group UK
Journal title:Translational psychiatry, 2024-01, Vol.14 (1), p.35-13, Article 35
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Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants
Author / Creator:Ferretti, Alessandro ; Simeoli, Raffaele ; Cairoli, Sara ; Pietrafusa, Nicola ; Trivisano, Marina ; Dionisi Vici, Carlo ; Specchio, Nicola ; Goffredo, Bianca Maria
Publisher:Basel: MDPI AG
Journal title:Pharmaceutics, 2022-10, Vol.14 (10), p.2230
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Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
Author / Creator:Gissen, Paul ; Specchio, Nicola ; Olaye, Andrew ; Jain, Mohit ; Butt, Thomas ; Ghosh, Wrik ; Ruban-Fell, Benjamin ; Griffiths, Annabel ; Camp, Charlotte ; Sisic, Zlatko ; Schwering, Christoph ; Wibbeler, Eva ; Trivisano, Marina ; Lee, Laura ; Nickel, Miriam ; Mortensen, Amanda ; Schulz, Angela
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.217-13, Article 217
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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE
Author / Creator:Papadopoulou, Maria T. ; Muccioli, Lorenzo ; Bisulli, Francesca ; Klotz, Kerstin Alexandra ; Fons, Carmen ; Trivisano, Marina ; Kabulashvili, Teia ; Specchio, Nicola ; Lesca, Gaetan ; Arzimanoglou, Alexis
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2024-06, Vol.9 (3), p.996-1006
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Fatal Status Epilepticus in Dravet Syndrome
Author / Creator:De Liso, Paola ; Pironi, Virginia ; Mastrangelo, Massimo ; Battaglia, Domenica ; Craiu, Dana ; Trivisano, Marina ; Specchio, Nicola ; Nabbout, Rima ; Vigevano, Federico
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2020-11, Vol.10 (11), p.889
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POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings
Author / Creator:Specchio, Nicola ; Pietrafusa, Nicola ; Calabrese, Costanza ; Trivisano, Marina ; Pepi, Chiara ; de Palma, Luca ; Ferretti, Alessandro ; Curatolo, Paolo ; Vigevano, Federico
Publisher:MDPI AG
Journal title:Brain sciences, 2020-11, Vol.10 (11), p.768
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The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature
Author / Creator:Pepi, Chiara ; de Palma, Luca ; Trivisano, Marina ; Pietrafusa, Nicola ; Lepri, Francesca Romana ; Diociaiuti, Andrea ; Camassei, Francesca Diomedi ; Carfi-Pavia, Giusy ; De Benedictis, Alessandro ; Rossi-Espagnet, Camilla ; Vigevano, Federico ; Marras, Carlo Efisio ; Novelli, Antonio ; Bluemcke, Ingmar ; Specchio, Nicola
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2021-06, Vol.11 (6), p.793
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Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Drav...
Author / Creator:De Liso, Paola ; Pironi, Virginia ; Mastrangelo, Massimo ; Battaglia, Domenica ; Craiu, Dana ; Trivisano, Marina ; Specchio, Nicola ; Nabbout, Rima ; Vigevano, Federico
Publisher:Basel: MDPI AG
Journal title:Brain sciences, 2021-06, Vol.11 (6), p.811
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Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy
Author / Creator:Specchio, Nicola ; Pietrafusa, Nicola ; Trivisano, Marina
Publisher:New Zealand: Taylor & Francis Ltd
Journal title:Therapeutics and clinical risk management, 2020-01, Vol.16, p.213-222
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Epileptic Encephalopathy
Author / Creator:Specchio, Nicola ; Trivisano, Marina ; Scott, Rod C. ; Ferrie, Colin
Publisher:Cairo, Egypt: Hindawi Limiteds
Journal title:Epilepsy Research and Treatment, 2012-01, Vol.2012 (2012), p.211-212
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Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy
Author / Creator:Specchio, Nicola ; Ferretti, Alessandro ; Trivisano, Marina ; Pietrafusa, Nicola ; Pepi, Chiara ; Calabrese, Costanza ; Livadiotti, Susanna ; Simonetti, Alessandra ; Rossi, Paolo ; Curatolo, Paolo ; Vigevano, Federico
Publisher:Cham: Springer International Publishing
Journal title:Drugs (New York, N.Y.), 2021-01, Vol.81 (1), p.101-123
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Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
Author / Creator:Schulz, Angela ; Specchio, Nicola ; de los Reyes, Emily ; Gissen, Paul ; Nickel, Miriam ; Trivisano, Marina ; Aylward, Shawn C ; Chakrapani, Anupam ; Schwering, Christoph ; Wibbeler, Eva ; Westermann, Lena Marie ; Ballon, Douglas J ; Dyke, Jonathan P ; Cherukuri, Anu ; Bondade, Shailesh ; Slasor, Peter ; Cohen Pfeffer, Jessica
Publisher:England: Elsevier Limited
Journal title:Lancet neurology, 2024-01, Vol.23 (1), p.60-70
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Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids
Author / Creator:Borghi, Rossella ; Magliocca, Valentina ; Trivisano, Marina ; Specchio, Nicola ; Tartaglia, Marco ; Bertini, Enrico ; Compagnucci, Claudia
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-03, Vol.23 (7), p.3506
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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
Author / Creator:Orlando, Valeria ; Di Tommaso, Silvia ; Alesi, Viola ; Loddo, Sara ; Genovese, Silvia ; Catino, Giorgia ; Martucci, Licia ; Roberti, Maria Cristina ; Trivisano, Marina ; Dentici, Maria Lisa ; Specchio, Nicola ; Dallapiccola, Bruno ; Ferretti, Alessandro ; Novelli, Antonio
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-11, Vol.23 (21), p.12900
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Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy
Author / Creator:Pietrafusa, Nicola ; Ferretti, Alessandro ; Trivisano, Marina ; de Palma, Luca ; Calabrese, Costanza ; Carfì Pavia, Giusy ; Tondo, Ilaria ; Cappelletti, Simona ; Vigevano, Federico ; Specchio, Nicola
Publisher:Cham: Springer International Publishing
Journal title:Paediatric drugs, 2019-08, Vol.21 (4), p.283-290
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National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
Author / Creator:Mei, Davide ; Balestrini, Simona ; Parrini, Elena ; Gambardella, Antonio ; Annesi, Grazia ; De Giorgis, Valentina ; Gana, Simone ; Bassi, Maria Teresa ; Zucca, Claudio ; Elia, Maurizio ; Vetri, Luigi ; Castellotti, Barbara ; Ragona, Francesca ; Mastrangelo, Mario ; Pisani, Francesco ; d'Orsi, Giuseppe ; Carella, Massimo ; Pruna, Dario ; Giglio, Sabrina ; Marini, Carla ; Cesaroni, Elisabetta ; Riva, Antonella ; Scala, Marcello ; Licchetta, Laura ; Minardi, Raffaella ; Contaldo, Ilaria ; Gambardella, Maria Luigia ; Cossu, Alberto ; Proietti, Jacopo ; Cantalupo, Gaetano ; Trivisano, Marina ; De Dominicis, Angela ; Specchio, Nicola ; Tassi, Laura ; Guerrini, Renzo ; Cellini, Elena ; Cetica, Valentina ; De Vita, Dalila ; Mandorlini, Claudia ; Pucatti, Daniela ; Rutigliano, Domenico ; Virdò, Simona ; Fortunato, Francesco ; Gagliardi, Monica ; Talarico, Mariagrazia ; Valente, Enza Maria ; Tartara, Elena ; Galimberti, Carlo Andrea ; Pasca, Ludovica ; Mambretti, Fabiana ; Bonanni, Paolo ; De Rinaldis, Marta ; Calì, Francesco ; Vinci, Mirella ; Musumeci, Antonino ; Messina, Giuliana ; Gellera, Cinzia ; Granata, Tiziana ; Freri, Elena ; Solazzi, Roberta ; Canafoglia, Laura ; Ricciardi, Giacomina ; Bove, Rossella ; Palumbo, Orazio ; Palumbo, Pietro ; Benvenuto, Mario ; Adragna, Carola ; Cossu, Silvia ; Siliquini, Sabrina ; Cappanera, Silvia ; Iacomino, Michele ; Madia, Francesca ; Striano, Pasquale ; Zara, Federico ; Bisulli, Francesca ; Muccioli, Lorenzo ; Pippucci, Tommaso ; Battaglia, Domenica Immacolata ; Quintiliani, Michela ; Perulli, Marco ; Veredice, Chiara ; Darra, Francesca ; Ghobert, Anna Ludovica ; Fiorini, Elena ; Fontana, Elena ; Terracciano, Alessandra
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2025-01, Vol.62 (1), p.25-31
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ArticlesPeer ReviewedFull Text
Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with IKCNT1/I Genetic Variants
Author / Creator:Ferretti, Alessandro ; Simeoli, Raffaele ; Cairoli, Sara ; Pietrafusa, Nicola ; Trivisano, Marina ; Dionisi Vici, Carlo ; Specchio, Nicola ; Goffredo, Bianca Maria
Publisher:MDPI AG
Journal title:Pharmaceutics, 2022-10, Vol.14 (10)
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Showing 1 to 20 of 24 results

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Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review

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A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

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Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis

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Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

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Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants

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Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE

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Fatal Status Epilepticus in Dravet Syndrome

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POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

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The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature

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Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Drav...

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Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

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Epileptic Encephalopathy

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Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy

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Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

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Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids

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A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy

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Purified Cannabidiol for Treatment of Refractory Epilepsies in Pediatric Patients with Developmental and Epileptic Encephalopathy

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National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy

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Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with IKCNT1/I Genetic Variants

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