Explanipedia

Effectiveness and safety of perampanel by concomitant antiseizure medications: Insights from the real-world PERMIT Extension study Open

Takamichi Yamamoto, Michael Chez, Dulce Campos, Simona Lattanzi, Sara Matricardi , et al. · 2025

The PERMIT Extension study is the largest pooled analysis of perampanel (PER) clinical practice data to date. A post-hoc analysis of PERMIT Extension assessed the effectiveness and tolerability of PER with different concomitant antiseizure…

Is highly purified cannabidiol a treatment opportunity for drug‐resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder? Open

Aglaia Vignoli, Giulia Prato, Enrico Alfei, Irene Bagnasco, Alberto Danieli , et al. · 2025

Objective This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug‐resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 De…

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study Open

Emanuele Cerulli Irelli, Adolfo Mazzeo, Roberto Caraballo, Marco Perulli, Patrick B. Moloney , et al. · 2025

Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Ad…

Fenfluramine treatment for Dravet syndrome: Long term real‐world analysis demonstrates safety and reduced health care burden Open

Alessandra Boncristiano, Simona Balestrini, Viola Doccini, Nicola Specchio, Nicola Pietrafusa , et al. · 2024

Objective Fenfluramine (FFA), stiripentol (STP), and cannabidiol (CBD) are approved add‐on therapies for seizures in Dravet syndrome (DS). We report on the long‐term safety and health care resource utilization (HCRU) of patients with DS tr…

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved Open

Giovanna Scorrano, Ludovica Di Francesco, Armando Di Ludovico, Francesco Chiarelli, Sara Matricardi · 2024

Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development, with variable degrees of severity and heterogeneous clinical features. They include intellectual disability (ID), autism spectrum disorder (ASD), at…

Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy Open

Giovanni Battista Dell’Isola, Antonella Fattorusso, F Pisani, Mario Mastrangelo, Duccio Maria Cordelli , et al. · 2024

Perampanel in post-stroke epilepsy: Clinical practice data from the PERampanel as Only Concomitant antiseizure medication (PEROC) study Open

Angelo Pascarella, Lucia Manzo, Sara Gasparini, Oreste Marsico, Domenico Abelardo , et al. · 2024

CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy Open

Giovanni Battista Dell’Isola, Fattorusso Antonella, F Pisani, Mastrangelo Mario, Duccio Maria Cordelli , et al. · 2024

Neuropsychological Symptoms and Quality of Life during the COVID-19 Pandemic in Children: A Survey in a Pediatric Population in the Abruzzo Region, Italy Open

Chiara Marcotullio, Marina Attanasi, Annamaria Porreca, Paola Di Filippo, Sara Matricardi , et al. · 2024

Background: The SARS-CoV-2 pandemic has significantly affected the pediatric population. Long-term sequelae (Long COVID-19) may particularly involve the central nervous system, with possible effects on psychological well-being and quality …

A profile of azetukalner for the treatment of epilepsy: from pharmacology to potential for therapy Open

Simona Lattanzi, Eugen Trinka, Stefano Meletti, Pasquale Striano, Sara Matricardi , et al. · 2024

Results from the phase 2b clinical trial strongly support the ongoing clinical development of azetukalner as a new ASM. Its pharmacokinetic properties support convenient once-daily dosing, eliminating the need for titration at initiation o…

The Cognitive and Behavioural Effects of Perampanel in Children with Neurodevelopmental Disorders: A Systematic Review Open

Giovanna Scorrano, Simona Lattanzi, Vincenzo Salpietro, Cosimo Giannini, Francesco Chiarelli , et al. · 2024

In children and adolescents with epilepsy, neurodevelopmental comorbidities can impair the quality of life more than seizures. The aim of this review was to evaluate the cognitive and behavioural effects of perampanel (PER) in the paediatr…

Perampanel as only add-on epilepsy treatment in elderly: A subgroup analysis of real-world data from retrospective, multicenter, observational study Open

Angelo Pascarella, Sara Gasparini, Lucia Manzo, Oreste Marsico, Claudia Torino , et al. · 2023

Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials Open

Simona Lattanzi, Eugen Trinka, Emilio Russo, Cinzia Del Giovane, Sara Matricardi , et al. · 2023

Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group Open

Valentina De Giorgis, Anna Tagliabue, Francesca Bisulli, Ilaria Brambilla, Alessandra Camerini , et al. · 2023

A stepwise increase in the utilization of ketogenic dietary therapies for drug-resistant epilepsy has been observed in Italy in the last decade, although it is still considered often underused in many centers when compared to other countri…

Neuroendocrine Effects on the Risk of Metabolic Syndrome in Children Open

Giovanna Scorrano, Saverio La Bella, Sara Matricardi, Francesco Chiarelli, Cosimo Giannini · 2023

The endocrine and nervous systems reciprocally interact to manage physiological individual functions and homeostasis. The nervous system modulates hormone release through the hypothalamus, the main cerebrally specialized structure of the n…

Neuroendocrine Effects on the Risk of Metabolic Syndrome in Children Open

Giovanna Scorrano, Saverio La Bella, Sara Matricardi, Francesco Chiarelli, Cosimo Giannini · 2023

Endocrine and nervous systems reciprocally interact to manage physiological individual functions and homeostasis. The nervous system modulates hormone release through the hypothalamus, the main cerebrally specialized structure of the neuro…

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder Open

Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović , et al. · 2023

Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data Open

Rima Nabbout, Sara Matricardi, Paola De Liso, Olivier Dulac, Mehdi Oualha · 2023

Background and purpose Ketogenic diet (KD) is an emerging treatment option for super-refractory status epilepticus (SRSE). We evaluated the effectiveness of KD in patients presenting SRSE including NORSE (and its subcategory FIRES). Method…

Long‐term effectiveness of add‐on perampanel in patients with Lennox–Gastaut syndrome: A multicenter retrospective study Open

Sara Matricardi, Elisabetta Cesaroni, Paolo Bonanni, Nicoletta Foschi, Alfredo D’Aniello , et al. · 2023

This retrospective study assessed long‐term effectiveness of add‐on perampanel (PER) in patients with Lennox–Gastaut syndrome (LGS). Outcomes included time to PER failure and time to seizure relapse in responders. PER failure was defined a…

A registry for Dravet syndrome: The Italian experience Open

Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi , et al. · 2023

Objectives We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools …

Efficacy and Safety of Fenfluramine in Epilepsy: A Systematic Review and Meta-analysis Open

Payam Tabaee Damavandi, Natalia Fabin, Riccardo Giossi, Sara Matricardi, Cinzia Del Giovane , et al. · 2023

Perampanel Monotherapy for Focal and Generalized Epilepsy in Clinical Practice Open

Yotin Chinvarun, Rafael Toledano, Alexandra Astner-Rohracher, Tim Wehner, Manuel Toledo , et al. · 2023

Objectives. To investigate the effectiveness, safety, and tolerability of perampanel (PER) when used as monotherapy to treat focal or generalized epilepsy in everyday clinical practice, using data from the PERMIT study. Methods. PERMIT was…

Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication Open

Sara Matricardi, Sandrine Cestèle, Marina Trivisano, Benedetta Kassabian, Nathalie Leroudier , et al. · 2023

Objective This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize antiseizure management by correlating phenotype–ge…

Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD Open

Margherita Nosadini, Michael Eyre, Thea Giacomini, Massimiliano Valeriani, Marida Della Corte , et al. · 2022

At first attack of pediatric MOGAD, early immunotherapy, longer duration of corticosteroid treatment, and abnormal optic nerves on MRI seem associated with lower risk of relapse, whereas higher disease severity is associated with greater r…

Effectiveness of perampanel as the only add‐on: Retrospective, multicenter, observational real‐life study on epilepsy patients Open

Sara Gasparini, Edoardo Ferlazzo, Sabrina Neri, Vittoria Cianci, Alfonso Iudice , et al. · 2022

Objective Perampanel (PER) is indicated as adjunctive antiseizure medication (ASM) in adolescents and adults with epilepsy. Data from clinical trials show good efficacy and tolerability, while limited information is available on the routin…

Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy Open

Sara Matricardi, Sara Casciato, Silvia Bozzetti, Sara Mariotto, Andrea Stabile , et al. · 2022

Objective To describe the clinical and paraclinical findings, treatment options and long-term outcomes in autoimmune encephalitis (AE), with a close look to epilepsy. Methods In this retrospective observational cohort study, we enrolled pa…

An Italian consensus on the management of Lennox-Gastaut syndrome Open

Antonella Riva, Antonietta Coppola, Carlo Di Bonaventura, Maurizio Elia, Edoardo Ferlazzo , et al. · 2022

Sleep disorders and neuropsychiatric disorders in a pediatric sample of tuberous sclerosis complex: a questionnaire-based study Open

Romina Moavero, Alessandra Voci, Francesca La Briola, Sara Matricardi, Irene Toldo , et al. · 2021

Unraveling the enigma of new‐onset refractory status epilepticus: a systematic review of aetiologies Open

Simona Lattanzi, Markus Leitinger, Chiara Rocchi, Sergio Salvemini, Sara Matricardi , et al. · 2021

Background and purpose New‐onset refractory status epilepticus (NORSE) is a clinical presentation, neither a specific diagnosis nor a clinical entity. It refers to a patient without active epilepsy or other pre‐existing relevant neurologic…

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Open

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg , et al. · 2021

We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related…

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