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Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants.
Published in:
Pharmaceutics, 2022, v. 14, n. 10, p. N.PAG, doi. 10.3390/pharmaceutics14102230
By:
- Ferretti, Alessandro;
- Simeoli, Raffaele;
- Cairoli, Sara;
- Pietrafusa, Nicola;
- Trivisano, Marina;
- Dionisi Vici, Carlo;
- Specchio, Nicola;
- Goffredo, Bianca Maria
Publication type:
Article
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Published in:
Journal of Child Neurology, 2021, v. 36, n. 6, p. 468, doi. 10.1177/0883073820977997
By:
- Wibbeler, Eva;
- Wang, Raymond;
- Reyes, Emily de los;
- Specchio, Nicola;
- Gissen, Paul;
- Guelbert, Norberto;
- Nickel, Miriam;
- Schwering, Christoph;
- Lehwald, Lenora;
- Trivisano, Marina;
- Lee, Laura;
- Amato, Gianni;
- Cohen-Pfeffer, Jessica;
- Shediac, Renée;
- Leal-Pardinas, Fernanda;
- Schulz, Angela
Publication type:
Article
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Published in:
2017
By:
- Niturad, Cristina Elena;
- Lev, Dorit;
- Kalscheuer, Vera M.;
- Charzewska, Agnieszka;
- Schubert, Julian;
- Lerman-Sagie, Tally;
- Kroes, Hester Y.;
- Oegema, Renske;
- Traverso, Monica;
- Specchio, Nicola;
- Lassota, Maria;
- Chelly, Jamel;
- Bennett-Back, Odeya;
- Carmi, Nirit;
- Koffler-Brill, Tal;
- Iacomino, Michele;
- Trivisano, Marina;
- Capovilla, Giuseppe;
- Striano, Pasquale;
- Nawara, Magdalena
Publication type:
journal article
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.
Published in:
Epilepsia (Series 4), 2015, v. 56, n. 5, p. e53, doi. 10.1111/epi.12967
By:
- Trivisano, Marina;
- Terracciano, Alessandra;
- Milano, Teresa;
- Cappelletti, Simona;
- Pietrafusa, Nicola;
- Bertini, Enrico Silvio;
- Vigevano, Federico;
- Specchio, Nicola
Publication type:
Article
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Published in:
Epilepsia (Series 4), 2011, v. 52, n. 7, p. 1251, doi. 10.1111/j.1528-1167.2011.03063.x
By:
- Specchio, Nicola;
- Marini, Carla;
- Terracciano, Alessandra;
- Mei, Davide;
- Trivisano, Marina;
- Sicca, Federico;
- Fusco, Lucia;
- Cusmai, Raffaella;
- Darra, Francesca;
- Bernardina, Bernardo Dalla;
- Bertini, Enrico;
- Guerrini, Renzo;
- Vigevano, Federico
Publication type:
Article
Rolandic epilepsy: An uncommon presentation with leg motor seizures.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2488, doi. 10.1111/j.1528-1167.2010.02733.x
By:
- Fusco, Lucia;
- Trivisano, Marina;
- Specchio, Nicola;
- Vigevano, Federico
Publication type:
Article
Panayiotopoulos syndrome: A clinical, EEG, and neuropsychological study of 93 consecutive patients.
Published in:
Epilepsia (Series 4), 2010, v. 51, n. 10, p. 2098, doi. 10.1111/j.1528-1167.2010.02639.x
By:
- Specchio, Nicola;
- Trivisano, Marina;
- Di Ciommo, Vincenzo;
- Cappelletti, Simona;
- Masciarelli, Giovanni;
- Volkov, Josiv;
- Fusco, Lucia;
- Vigevano, Federico
Publication type:
Article
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12900, doi. 10.3390/ijms232112900
By:
- 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
Publication type:
Article
Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3506, doi. 10.3390/ijms23073506
By:
- Borghi, Rossella;
- Magliocca, Valentina;
- Trivisano, Marina;
- Specchio, Nicola;
- Tartaglia, Marco;
- Bertini, Enrico;
- Compagnucci, Claudia
Publication type:
Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
Published in:
Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0803-0
By:
- 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
Publication type:
Article
POGZ‐related epilepsy: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1631, doi. 10.1002/ajmg.a.61206
By:
- Ferretti, Alessandro;
- Barresi, Sabina;
- Trivisano, Marina;
- Ciolfi, Andrea;
- Dentici, Maria L.;
- Radio, Francesca C.;
- Vigevano, Federico;
- Tartaglia, Marco;
- Specchio, Nicola
Publication type:
Article
Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1194, doi. 10.1002/ajmg.a.35859
By:
- d'Orsi, Giuseppe;
- Pascarella, Maria Grazia;
- Pansini, Angela;
- Buonadonna, Antonia Lucia;
- Trivisano, Marina;
- Pacillo, Francesca;
- Carapelle, Elena;
- Demaio, Vincenzo;
- Minervini, Mauro;
- Gentile, Mattia;
- Specchio, Luigi M.
Publication type:
Article
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Published in:
Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02753-x
By:
- 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;
- PCDH19 Clinical Study Group;
- Ferrari, Annarita;
- Pisano, Tiziana;
- Sicca, Federico;
- Striano, Pasquale;
- D'Incerti, Ludovico;
- Barba, Carmen;
- Specchio, Nicola
Publication type:
Article
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.
Published in:
Drugs, 2021, v. 81, n. 1, p. 101, doi. 10.1007/s40265-020-01440-7
By:
- Specchio, Nicola;
- Ferretti, Alessandro;
- Trivisano, Marina;
- Pietrafusa, Nicola;
- Pepi, Chiara;
- Calabrese, Costanza;
- Livadiotti, Susanna;
- Simonetti, Alessandra;
- Rossi, Paolo;
- Curatolo, Paolo;
- Vigevano, Federico
Publication type:
Article
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
Published in:
Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2022.874695
By:
- Amin, Sam;
- Monaghan, Marie;
- Aledo-Serrano, Angel;
- Bahi-Buisson, Nadia;
- Chin, Richard F.;
- Clarke, Angus J.;
- Cross, J. Helen;
- Demarest, Scott;
- Devinsky, Orrin;
- Downs, Jenny;
- Pestana Knight, Elia M.;
- Olson, Heather;
- Partridge, Carol-Anne;
- Stuart, Graham;
- Trivisano, Marina;
- Zuberi, Sameer;
- Benke, Tim A.
Publication type:
Article
Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses.
Published in:
Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.845877
By:
- Trivisano, Marina;
- Ferretti, Alessandro;
- Calabrese, Costanza;
- Pietrafusa, Nicola;
- Piscitello, Ludovica;
- Carfi' Pavia, Giusy;
- Vigevano, Federico;
- Specchio, Nicola
Publication type:
Article
Red flags for neuronal ceroid lipofuscinosis type 2 disease.
Published in:
2019
By:
- Trivisano, Marina;
- Specchio, Nicola
Publication type:
journal article
Focal cortical dysplasia in genetic epilepsy: new insights from PCDH19-related epilepsy.
Published in:
2018
By:
- Trivisano, Marina;
- Specchio, Nicola
Publication type:
journal article
Neonatal hemifacial spasm and fourth ventricle mass.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 8, p. 697, doi. 10.1111/j.1469-8749.2012.04247.x
By:
- SPECCHIO, NICOLA;
- TRIVISANO, MARINA;
- BERNARDI, BRUNO;
- MARRAS, CARLO EFISIO;
- FAGGIOLI, RAFFAELLA;
- FIUMANA, ELISA;
- CAPPELLETTI, SIMONA;
- DELALANDE, OLIVIER;
- VIGEVANO, FEDERICO;
- FUSCO, LUCIA
Publication type:
Article
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 Dravet Syndrome. Brain Sci. 2020, 10 , 889".
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 811, doi. 10.3390/brainsci11060811
By:
- De Liso, Paola;
- Pironi, Virginia;
- Mastrangelo, Massimo;
- Battaglia, Domenica;
- Craiu, Dana;
- Trivisano, Marina;
- Specchio, Nicola;
- Nabbout, Rima;
- Vigevano, Federico
Publication type:
Article
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 6, p. 793, doi. 10.3390/brainsci11060793
By:
- 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
Publication type:
Article
Fatal Status Epilepticus in Dravet Syndrome.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 889, doi. 10.3390/brainsci10110889
By:
- De Liso, Paola;
- Pironi, Virginia;
- Mastrangelo, Massimo;
- Battaglia, Domenica;
- Craiu, Dana;
- Trivisano, Marina;
- Specchio, Nicola;
- Nabbout, Rima;
- Vigevano, Federico
Publication type:
Article
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 768, doi. 10.3390/brainsci10110768
By:
- Specchio, Nicola;
- Pietrafusa, Nicola;
- Calabrese, Costanza;
- Trivisano, Marina;
- Pepi, Chiara;
- de Palma, Luca;
- Ferretti, Alessandro;
- Curatolo, Paolo;
- Vigevano, Federico
Publication type:
Article
Surgical management of pediatric intracranial cerebral cavernous malformations: a 10-year single-center experience.
Published in:
Journal of Neurosurgical Sciences, 2024, v. 68, n. 3, p. 278, doi. 10.23736/s0390-5616.22.05574-6
By:
- CALLONI, TOMMASO;
- CARAI, ANDREA;
- LIOI, FRANCESCO;
- CAVALIERE, MARILOU;
- DE BENEDICTIS, ALESSANDRO;
- ROSSI, SABRINA;
- RANDI, FRANCO;
- ESPAGNET, MARIA C. ROSSI;
- TRIVISANO, MARINA;
- CESARIO, CLAUDIA;
- PISANESCHI, ELISA;
- MARASI, ALESSANDRA;
- SAVIOLI, ALESSANDRA;
- GIUSSANI, CARLO G.;
- MARRAS, CARLO E.
Publication type:
Article
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Published in:
Epilepsia Open, 2024, v. 9, n. 3, p. 996, doi. 10.1002/epi4.12930
By:
- Papadopoulou, Maria T.;
- Muccioli, Lorenzo;
- Bisulli, Francesca;
- Klotz, Kerstin Alexandra;
- Fons, Carmen;
- Trivisano, Marina;
- Kabulashvili, Teia;
- Specchio, Nicola;
- Lesca, Gaetan;
- Arzimanoglou, Alexis
Publication type:
Article
Fenfluramine below the age of 2 years in Dravet syndrome: What about safety and efficacy?
Published in:
Epilepsia (Series 4), 2024, v. 65, n. 2, p. e7, doi. 10.1111/epi.17854
By:
- Pietrafusa, Nicola;
- Trivisano, Marina;
- Casellato, Susanna;
- Correale, Cinzia;
- Cappelletti, Simona;
- De Liso, Paola;
- Onida, Ilaria;
- Sotgiu, Stefano;
- Butera, Ambra;
- Specchio, Nicola;
- Vigevano, Federico
Publication type:
Article
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542
By:
- Oliver, Karen L.;
- Trivisano, Marina;
- Mandelstam, Simone A.;
- De Dominicis, Angela;
- Francis, David I.;
- Green, Timothy E.;
- Muir, Alison M.;
- Chowdhary, Apoorva;
- Hertzberg, Christoph;
- Goldhahn, Klaus;
- Metreau, Julia;
- Prager, Christine;
- Pinner, Jason;
- Cardamone, Michael;
- Myers, Kenneth A.;
- Leventer, Richard J.;
- Lesca, Gaetan;
- Bahlo, Melanie;
- Hildebrand, Michael S.;
- Mefford, Heather C.
Publication type:
Article
Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1331, doi. 10.1111/epi.17509
By:
- Matricardi, Sara;
- Cestèle, Sandrine;
- Trivisano, Marina;
- Kassabian, Benedetta;
- Leroudier, Nathalie;
- Vittorini, Roberta;
- Nosadini, Margherita;
- Cesaroni, Elisabetta;
- Siliquini, Sabrina;
- Marinaccio, Cristina;
- Longaretti, Francesca;
- Podestà, Barbara;
- Operto, Francesca Felicia;
- Luisi, Concetta;
- Sartori, Stefano;
- Boniver, Clementina;
- Specchio, Nicola;
- Vigevano, Federico;
- Marini, Carla;
- Mantegazza, Massimo
Publication type:
Article
The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 1, p. 6, doi. 10.1111/epi.17115
By:
- Specchio, Nicola;
- Di Micco, Valentina;
- Trivisano, Marina;
- Ferretti, Alessandro;
- Curatolo, Paolo
Publication type:
Article
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2405, doi. 10.1111/epi.16690
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
Publication type:
Article
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 7, p. e71, doi. 10.1111/epi.16582
By:
- Trivisano, Marina;
- Ferretti, Alessandro;
- Bebin, Elizabeth;
- Huh, Linda;
- Lesca, Gaetan;
- Siekierska, Aleksandra;
- Takeguchi, Ryo;
- Carneiro, Maryline;
- De Palma, Luca;
- Guella, Ilaria;
- Haginoya, Kazuhiro;
- Shi, Ruo Ming;
- Kikuchi, Atsuo;
- Kobayashi, Tomoko;
- Jung, Julien;
- Lagae, Lieven;
- Milh, Mathieu;
- Mathieu, Marie L.;
- Minassian, Berge A.;
- Novelli, Antonio
Publication type:
Article
Successful use of fenfluramine in nonconvulsive status epilepticus of Dravet syndrome.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 4, p. 831, doi. 10.1111/epi.16474
By:
- Specchio, Nicola;
- Pietrafusa, Nicola;
- Ferretti, Alessandro;
- Trivisano, Marina;
- Vigevano, Federico
Publication type:
Article
Pediatric status epilepticus: Identification of prognostic factors using the new ILAE classification after 5 years of follow‐up.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 12, p. 2486, doi. 10.1111/epi.16385
By:
- Specchio, Nicola;
- Pietrafusa, Nicola;
- Bellusci, Marcello;
- Trivisano, Marina;
- Benvenga, Antonella;
- Palma, Luca;
- Ferretti, Alessandro;
- Carfi' Pavia, Giusy;
- Calabrese, Costanza;
- Tondo, Ilaria;
- Cappelletti, Simona;
- De Liso, Paola;
- Pepi, Chiara;
- Fusco, Lucia;
- Vigevano, Federico
Publication type:
Article
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 12, p. 2260, doi. 10.1111/epi.14600
By:
- Trivisano, Marina;
- Pietrafusa, Nicola;
- Terracciano, Alessandra;
- Marini, Carla;
- Mei, Davide;
- Darra, Francesca;
- Accorsi, Patrizia;
- Battaglia, Domenica;
- Caffi, Lorella;
- Canevini, Maria P.;
- Cappelletti, Simona;
- Cesaroni, Elisabetta;
- Palma, Luca;
- Costa, Paola;
- Cusmai, Raffaella;
- Giordano, Lucio;
- Ferrari, Annarita;
- Freri, Elena;
- Fusco, Lucia;
- Granata, Tiziana
Publication type:
Article
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 8, p. 1380, doi. 10.1111/epi.13820
By:
- Specchio, Nicola;
- Bellusci, Marcello;
- Pietrafusa, Nicola;
- Trivisano, Marina;
- Palma, Luca;
- Vigevano, Federico
Publication type:
Article
Long-term applicability of the new ILAE definition of epilepsy. Results from the PRO- LONG study.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 9, p. 1518, doi. 10.1111/epi.13854
By:
- Beretta, Simone;
- Carone, Davide;
- Zanchi, Clara;
- Bianchi, Elisa;
- Pirovano, Marta;
- Trentini, Claudia;
- Padovano, Giada;
- Colombo, Matteo;
- Cereda, Diletta;
- Scanziani, Sofia;
- Giussani, Giorgia;
- Gasparini, Sara;
- Bogliun, Graziella;
- Ferrarese, Carlo;
- Beghi, Ettore;
- Romeo, Antonino;
- Viri, Maurizio;
- Lodi, Monica;
- Specchio, Luigi;
- Trivisano, Marina
Publication type:
Article
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 6, p. e91, doi. 10.1111/epi.13772
By:
- Trivisano, Marina;
- Lucchi, Chiara;
- Rustichelli, Cecilia;
- Terracciano, Alessandra;
- Cusmai, Raffaella;
- Ubertini, Grazia Maria;
- Giannone, Germana;
- Bertini, Enrico Silvio;
- Vigevano, Federico;
- Gecz, Jozef;
- Biagini, Giuseppe;
- Specchio, Nicola
Publication type:
Article
Vigabatrin efficacy in GPR56-associated polymicrogyria: The role of GABA<sub>A</sub> receptor pathway.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 8, p. 1337, doi. 10.1111/epi.13453
By:
- Bellusci, Marcello;
- Trivisano, Marina;
- Palma, Luca;
- Pietrafusa, Nicola;
- Vigevano, Federico;
- Specchio, Nicola
Publication type:
Article
PCDH19-related epilepsy in two mosaic male patients.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 3, p. e51, doi. 10.1111/epi.13295
By:
- Terracciano, Alessandra;
- Trivisano, Marina;
- Cusmai, Raffaella;
- De Palma, Luca;
- Fusco, Lucia;
- Compagnucci, Claudia;
- Bertini, Enrico;
- Vigevano, Federico;
- Specchio, Nicola
Publication type:
Article
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 3, p. 473, doi. 10.1093/hmg/ddac213
By:
- Flex, Elisabetta;
- Albadri, Shahad;
- Radio, Francesca Clementina;
- Cecchetti, Serena;
- Lauri, Antonella;
- Priolo, Manuela;
- Kissopoulos, Marta;
- Carpentieri, Giovanna;
- Fasano, Giulia;
- Venditti, Martina;
- Magliocca, Valentina;
- Bellacchio, Emanuele;
- Welch, Carrie L;
- Colombo, Paolo C;
- Kochav, Stephanie M;
- Chang, Richard;
- Barrick, Rebekah;
- Trivisano, Marina;
- Micalizzi, Alessia;
- Borghi, Rossella
Publication type:
Article
Expanding the clinical spectrum associated with PACS2 mutations.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 525, doi. 10.1111/cge.13516
By:
- Dentici, Maria L.;
- Digilio, Maria C.;
- Barresi, Sabina;
- Niceta, Marcello;
- Ciolfi, Andrea;
- Dallapiccola, Bruno;
- Tartaglia, Marco;
- Trivisano, Marina;
- Specchio, Nicola;
- Bartuli, Andrea
Publication type:
Article
Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.
Published in:
Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1215684
By:
- Trivisano, Marina;
- Butera, Ambra;
- Quintavalle, Chiara;
- De Dominicis, Angela;
- Calabrese, Costanza;
- Cappelletti, Simona;
- Vigevano, Federico;
- Novelli, Antonio;
- Specchio, Nicola
Publication type:
Article
Acute intralesional recording in hypothalamic hamartoma: description of 4 cases.
Published in:
Acta Neurologica Belgica, 2015, v. 115, n. 3, p. 233, doi. 10.1007/s13760-014-0374-z
By:
- Specchio, Nicola;
- Rizzi, Michele;
- Trivisano, Marina;
- Fusco, Lucia;
- Rebessi, Erica;
- Cappelletti, Simona;
- Palma, Luca;
- Villani, Flavio;
- Savioli, Alessandra;
- Benedictis, Alessandro;
- Marras, Carlo;
- Vigevano, Federico;
- Delalande, Olivier
Publication type:
Article
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).
Published in:
2021
By:
- 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
Publication type:
journal article
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Published in:
2019
By:
- Burgess, Rosemary;
- Wang, Shuyu;
- McTague, Amy;
- Boysen, Katja E.;
- Yang, Xiaoling;
- Zeng, Qi;
- Myers, Kenneth A.;
- Rochtus, Anne;
- Trivisano, Marina;
- Gill, Deepak;
- Sadleir, Lynette G.;
- Specchio, Nicola;
- Guerrini, Renzo;
- Marini, Carla;
- Zhang, Yue‐Hua;
- Mefford, Heather C.;
- Kurian, Manju A.;
- Poduri, Annapurna H.;
- Scheffer, Ingrid E.;
- Zhang, Yue-Hua
Publication type:
journal article
Red flags for neuronal ceroid lipofuscinosis type 2 disease.
Published in:
Developmental Medicine & Child Neurology, 2020, v. 62, n. 4, p. 414, doi. 10.1111/dmcn.14389
By:
- Trivisano, Marina;
- Specchio, Nicola
Publication type:
Article
Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis.
Published in:
Antioxidants, 2021, v. 10, n. 8, p. 1267, doi. 10.3390/antiox10081267
By:
- Petrillo, Sara;
- Pietrafusa, Nicola;
- Trivisano, Marina;
- Calabrese, Costanza;
- Saura, Francesca;
- Gallo, Maria Giovanna;
- Bertini, Enrico Silvio;
- Vigevano, Federico;
- Specchio, Nicola;
- Piemonte, Fiorella
Publication type:
Article
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
Published in:
Cerebral Cortex, 2023, v. 33, n. 17, p. 9709, doi. 10.1093/cercor/bhad235
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
Publication type:
Article
Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy.
Published in:
Cerebral Cortex, 2020, v. 30, n. 11, p. 6039, doi. 10.1093/cercor/bhaa177
By:
- Lenge, Matteo;
- Marini, Carla;
- Canale, Edoardo;
- Napolitano, Antonio;
- Masi, Salvatore De;
- Trivisano, Marina;
- Mei, Davide;
- Longo, Daniela;
- Espagnet, Maria Camilla Rossi;
- Lucenteforte, Ersilia;
- Group, PCDH19 Clinical Study;
- Barba, Carmen;
- Specchio, Nicola;
- Guerrini, Renzo
Publication type:
Article
Autism and Epilepsy in Patients With Tuberous Sclerosis Complex.
Published in:
Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00639
By:
- Specchio, Nicola;
- Pietrafusa, Nicola;
- Trivisano, Marina;
- Moavero, Romina;
- De Palma, Luca;
- Ferretti, Alessandro;
- Vigevano, Federico;
- Curatolo, Paolo
Publication type:
Article

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