Differential effects of sodium channel blockers on SCN8A gain-of-function variants associated with drug-responsive or -resistant epilepsy
Hang Lyu, Siyu Li, Roberto Previtali, Katrine M. Johannesen et autres
0 citationsmedRxiv
Roberto Previtali
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28Publications signalées
267Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Diet and metabolism studiesEpilepsy research and treatmentMetabolism and Genetic DisordersGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Publications récentes
Climate change and pediatric neurology: A call to action
Thomas Foiadelli, Tessa Wassenberg, Ivan A. Janssens, Roberto Previtali et autres
0 citationsZurich Open Repository and Archive (University of Zurich)
Cenobamate as add‐on treatment for SCN8A developmental and epileptic encephalopathy
Cathrine E. Gjerulfsen, Madeleine J. Oudin, Francesca Furia, Sopio Gverdtsiteli et autres
26 citationsEpilepsia
The natural history of CDKL5 deficiency disorder into adulthood
Ángel Aledo‐Serrano, David Lewis‐Smith, Helen Leonard, Allan Bayat et autres
2 citationsmedRxiv
Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series
F Pacchiano, Chiara Doneda, Filippo Arrigoni, Mario Tortora et autres
1 citationAmerican Journal of Neuroradiology
Quantitative EEG biomarkers for STXBP1 ‐related disorders
Alberto Cossu, Francesca Furia, Jacopo Proietti, Caterina Ancora et autres
8 citationsEpilepsia
Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy
Cathrine E. Gjerulfsen, Madeleine J. Oudin, Francesca Furia, Sopio Gverdtsiteli et autres
1 citationmedRxiv
Sleep disturbances in SCN8A ‐related disorders
Francesca Furia, Katrine M. Johannesen, Claudia Bonardi Kniphoff da Cruz, Roberto Previtali et autres
9 citationsEpilepsia Open
Long−term health outcome and quality of life in children with multisystem inflammatory syndrome: findings from multidisciplinary follow−up at an Italian tertiary−care paediatric hospital
Enza D’Auria, Stefania Maria Bova, Andrea Riccardo Dallapiccola, Raffaella De Santis et autres
8 citationsEuropean Journal of Pediatrics
Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach
Barbara Castellotti, Francesca Ragona, Elena Freri, Giuliana Messina et autres
12 citationsEpilepsia Open
Long-Term Health Outcome and Quality of Life in Children with Multisystem Inflammatory Syndrome: Findings from Multidisciplinary Follow Up at an Italian Tertiary-Care Paediatric Hospital
Stefania Maria Bova, Andrea Riccardo Dallapiccola, Raffaella De Santis, Alessandro Leone et autres
0 citationsSSRN Electronic Journal
A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet
Jacopo C. DiFrancesco, Francesca Ragona, Carmen Murano, Anthony Frosio et autres
9 citationsEpilepsia
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