Explanipedia

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop Open

Antonella Riva, Gianluca D’Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin , et al. · 2025

Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical…

The natural history of CDKL5 deficiency disorder into adulthood Open

Ángel Aledo‐Serrano, David Lewis‐Smith, Helen Leonard, Allan Bayat, Mohammed Junaid , et al. · 2025

Knowledge of the natural history of CDKL5 deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future…

Unexpected Hemostatic Complications During Dental Implant and Mini-Screw Therapy in Von Willebrand Disease: Case Report Open

Cristina Mennitti, Silvia Paolucci, Angelo Russo, Edoardo Stellini · 2025

Community‐onset pediatric status epilepticus: Barriers to care and outcomes in a real‐world setting Open

Anna Fetta, Luca Bergonzini, Arianna Dondi, Laura Maria Beatrice Belotti, Federica Sperandeo , et al. · 2024

Objective Status epilepticus (SE) is a neurological emergency in childhood, often leading to neuronal damage and long‐term outcomes. The study aims to identify barriers in the pre‐hospital and in‐hospital management of community‐onset pedi…

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study Open

Mario Mastrangelo, Carlo Greco, Manuela Tolve, Emanuele Bartolini, Angelo Russo , et al. · 2024

Efficacy and Safety of Pulse Intravenous Methylprednisolone in Pediatric Epileptic Encephalopathies: Timing and Networks Consideration Open

Angelo Russo, Serena Mazzone, Laura Landolina, Roberta Colucci, Flavia Baccari , et al. · 2024

Background: Epileptic encephalopathies (EE) are characterized by severe drug-resistant seizures, early onset, and unfavorable developmental outcomes. This article discusses the use of intravenous methylprednisolone (IVMP) pulse therapy in …

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene Open

Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo , et al. · 2024

O’Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder caused by mutations in the KMT2E gene. The clinical phonotype of the affected individuals is typically characterized by global developmental delay, autism, epilepsy,…

Efficacy and Safety of Pulse Intravenous Methylprednisolone in Pediatric Epileptic Encephalopathies: Timing and Networks Consideration Open

Angelo Russo, Serena Mazzone, Laura Landolina, Roberta Colucci, Flavia Baccari , et al. · 2024

Background: epileptic encephalopathies (EE) are characterized by severe drug-resistant seizures, early-onset, and unfavorable developmental outcome. We describe a cohort of pediatric patients with EE who underwent intravenous methylprednis…

Efficacy and Safety of Pulse Intravenous Methylprednisolone in Pediatric Epileptic Encephalopathies: Timing and Networks Consideration Open

Angelo Russo, Serena Mazzone, Laura Landolina, Roberta Colucci, Flavia Baccari , et al. · 2024

Background: epileptic encephalopathies (EE) are characterized by severe drug-resistant seizures, early-onset, and unfavorable developmental outcome. We describe a cohort of pediatric patients with EE who underwent intravenous methylprednis…

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 …

Perampanel as precision therapy in rare genetic epilepsies Open

Andreea Nissenkorn, Gerhard Kluger, Susanne Schubert‐Bast, Allan Bayat, Marya Bobylova , et al. · 2023

Objective Perampanel, an antiseizure drug with α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsie…

Resolution of Migraine with Aura Associated with Warfarin Use: A Case Report Open

Angelo Russo, Fabiana Zani, Maria De Paola, Sara Santi · 2023

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia Open

Giorgia Dinoi, Michael J. Morin, Elena Conte, Hagar Mor Shaked, Maria Antonietta Coppola , et al. · 2022

Mutations in the KCNA1 gene, encoding the voltage-gated potassium channel Kv1.1, have been associated with a spectrum of neurological phenotypes, including episodic ataxia type 1 and developmental and epileptic encephalopathy. We have rece…

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

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE Open

Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev , et al. · 2022

The disease course in STXBP1-DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at sei…

ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature Open

Angelo Russo, Cristina Forest, Giulia Joy Leone, Maria Iascone, Romano Tenconi , et al. · 2021

Poller blocking screw augmentation to treat delayed union of proximal tibial shaft fracture after locked IM nailing. Open

Alberto Ferreli, Daniela Nonne, Angelo Russo, Giuseppe Dessì, Giuseppe Marongiu · 2021

Although nail dynamization is the choice treatment to obtain fracture compression for delayed union of tibial shaft fractures, augmentation with Poller blocking screw could provide additional mechanical stiffness in unstable supra-isthmic …

Brivaracetam in treating epileptic encephalopathy and refractory focal epilepsies in patients under 14 years of age. Open

Angelo Russo, Vittoria Cuteri, Lalit Bansal, Paolo Bonanni, Alberto Danieli , et al. · 2021

Brivaracetam was an effective and well-tolerated treatment in pediatric patients with epileptic encephalopathy or unresponsive focal epilepsy, especially for the epilepsy onset >12 months and the epilepsy duration ≤6 years. The total effec…

Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv‐specific Pro‐Val‐Pro motif: phenotypic description and remarkable electroclinical response to ACTH Open

Angelo Russo, Giuseppe Gobbi, Antonella Pini, Rikke S. M⊘ller, Guido Rubboli · 2020

Although the classic phenotype of episodic ataxia type 1 (EA1) caused by variants in KCNA1 includes episodic ataxia and myokymia, further genotype‐phenotype correlations are difficult to establish due to highly heterogeneous clinical prese…

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants Open

Federica Malerba, Giulio Alberini, Ganna Balagura, Francesca Marchese, Elisabetta Amadori , et al. · 2020

Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo pathogenic variants to dissect g…

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation* Open

Caterina Zanus, Paola Costa, Flavio Faletra, Luciana Musante, Angelo Russo , et al. · 2020

Heterozygous variants in the SPATA5 gene have recently been described to be associated with epileptic encephalopathy. As of 2019, 37 patients have been described in the published literature. We report a patient with a novel autosomal reces…

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations Open

Andrea Accogli, Mariasavina Severino, Antonella Riva, Francesca Madia, Ganna Balagura , et al. · 2020

A reflection on the role of genetics in the concept of “epileptic encephalopathy”, as emerged from the most recent ILEA classification of epilepsy Open

Angelo Russo, Giuseppe Gobbi · 2020

The localizing value of epileptic auras: pitfalls in semiology and involved networks Open

Angelo Russo, Anca-Adriana Arbune, Lalit Bansal, Ioanna Mindruta, Giuseppe Gobbi , et al. · 2019

A more complete understanding of the epileptic aura represents an important challenge for localizing the epileptogenic zone and understanding brain networks. This review re‐visits the localizing value of the epileptic aura, focusing on cli…

Prognostic factors in epileptic encephalopathies at onset in the first 2 years of life: The experience of a tertiary healthcare center in Italy Open

Giuditta Pellino, Francesca Chiavarino, Elisa Fiumana, Antonella Boni, Angelo Russo , et al. · 2019

This study was conducted to recognize possible prognostic factors among onset data of patients with EE, considering multiple outcome measures. This study design represents an innovative element compared to available papers, which were cent…

Bilateral facial nerve palsy in a child: When the smile returns Open

Tullio Messana, Francesca Lombardi, Andrea Canini, Angelo Russo, Chiara Landini , et al. · 2018

Bilateral facial nerve palsy (FNP) is an extremely rare clinical condition. Different from unilateral FNP, because of idiopathic or Bell's palsy in the majority of cases, bilateral FNP is most often correlated to an underlying medical cond…

Glucose transporter type 1 deficiency syndrome: Developmental delay and early-onset ataxia in a novel mutation of the SLC2A1 gene Open

Tullio Messana, Angelo Russo, Raffaella Vergaro, Antonella Boni, Margherita Santucci , et al. · 2018

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex di…

Response: Added value and limitations of electrical source localization Open

Angelo Russo, Matt Lallas, Prasanna Jayakar, Ian Miller, Ann Hyslop , et al. · 2017

In their commentary on our two articles1, 2 Rikir et al. offer several insightful observations and pose a series of questions regarding the reliability of electrical source imaging (ESI). The respondents suggest that a negative outcome in …

West syndrome in three patients with brain injury and a benign course Open

Angelo Russo, Michael Duchowny, Antonella Boni, Melania Giannotta, M. Filippini , et al. · 2017

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