Managing rare and complex epilepsies – part II
Convegno residenziale gratuito sulle epilessie rare e complesse in età pediatrica (Parte II). Focus su genetica, marcatori neurofisiologici, comorbilità e nuove terapie. Rivolto a neurologi, neuropsichiatri infantili e infermieri. Gaslini Academy, Genova. 6 crediti ECM.
Fonte dati per questo evento: Agenas. Evento organizzato da provider terzo. Smart ECM riporta dati pubblici dell'evento a scopo informativo e non è responsabile né del corso né dei contenuti, né ha accordi commerciali o di collaborazione con il provider.
Razionale scientifico
Rare and complex epilepsies represent a significant challenge in pediatrics. These forms of epilepsy are often associated with genetic syndromes and rare diseases, with an incidence of fewer than 5 cases per 10,000 people. In children, these conditions often manifest with drug-resistant seizures and complex neurological and cognitive disabilities, significantly impacting the quality of life for both patients and their families. In recent years, advances in medical genetics have allowed for a better understanding of the molecular bases of many forms of pediatric epilepsy. The identification of mutations in specific genes has led to new diagnostic and therapeutic approaches, paving the way for precision medicine. This approach enables clinical management to be directed not only based on the clinical and electroencephalographic characteristics of the patient but also according to the specific genetic profile, thereby improving the effectiveness of therapies and optimizing the child's quality of life. The objective of the conference is to deepen knowledge about rare and complex epilepsies in childhood, with a specific focus on genetic forms and new targeted treatments. Real clinical cases will be discussed, and diagnostic pathways will be analyzed, including next-generation sequencing (NGS) technologies, the interpretation of genetic data, and their impact on therapeutic decisions. Additionally, the multidisciplinary approach necessary to manage the psychiatric, cognitive, and behavioral comorbidities that often accompany these forms of epilepsy will be evaluated. Through this event, participants will receive scientific and practical updates to guide them in the integrated and personalized management of rare and complex epilepsies in pediatric patients. The ultimate goal is to contribute to comprehensive patient care and enhance future therapeutic prospects.
Luogo
Villa Quartara - Gaslini Academy
Via Romana della Castagna 11a, Genova (GE)
Programma
Session I – Opening· Villa Quartara, Gaslini Academy, Genova
- 08:30-09:00Participant registration
- 09:00-09:10Introduction and event opening
- 09:10-09:15Welcome from the authorities
- 09:15-09:45Early differential impact of gene mutations on functional networks in Rare DiseaseMichela Fagiolini
Session II – Epilepsy in Rare Diseases· Villa Quartara, Gaslini Academy, Genova
- 09:45-10:00The complexity of outcomes evaluations in Rare Diseases with epilepsyValentina De Giorgis
- 10:00-10:15Assessment of multidimensional outcomes beyond seizures: health-Related Quality of LifeEmanuele Bartolini
- 10:15-10:30Neurophysiological markers in Rare Disease with epilepsyMatteo Cataldi
- 10:30-10:45Biochemical markers in Rare Disease with epilepsyEnrico Tongiorgi
- 10:45-11:00Discussion
Session III – Comorbidities in Rare Diseases· Villa Quartara, Gaslini Academy, Genova
- 11:30-11:45Movement disorders in Rare Disease with epilepsy: overview and treatmentGaetano Cantalupo
- 11:45-12:00Sleep disorders in Rare Disease with epilepsyRamona Cordani
- 12:15-12:30Psychiatric disorders in Rare Disease with epilepsyLaura Siri
- 12:30-13:00Discussion
Session IV – Treatment· Villa Quartara, Gaslini Academy, Genova
- 14:00-14:15Pharmacological treatment and the complexity of drug interactionsEmilio Russo
- 14:15-14:30Emerging therapies: new frontiersAglaia Vignoli
- 14:30-14:45Digital twins and Rare DiseasePasquale Striano
- 14:45-16:00Clinical cases (Genova, Torino, Milano)
- 16:00-16:15Discussion and closing remarksNobili, Prato, Mancardi
- 16:15-16:30Discussion and summary; proposal for a study on neurophysiological biomarkers
Responsabili del corso
GASLINI ACADEMY
Provider
ID Provider: N° 856
Città: Genova (GE)
Tipologia: Società, Agenzie Ed Enti Privati
Stato accreditamento: Standard - 1° Rinnovo
Medico – Dipartimento Neuropsichiatria Infantile Giulia Prato
Responsabile scientifico
Specializzazione: Neuropsichiatria infantile
Struttura: Gaslini Academy, Genova
Relatori e docenti
Irene Bagnasco
Moderatore
Ruolo: Torino
Carlotta Canavese
Moderatore
Elisa De Grandis
Moderatore
Ruolo: Genova
Maria Margherita Mancardi
Moderatore
Ruolo: Genova
Sara Matricardi
Relatore
Lino Nobili
Relatore
Alessandro Orsini
Moderatore
Antonella Riva
Relatore
Laura Siri
Relatore
Ruolo: Genova
Aglaia Vignoli
Relatore
Ruolo: Milano
Flavio Villani
Moderatore
Roberta Vittorini
Moderatore
Ruolo: Torino
Federico Zara
Moderatore
Con il contributo non vincolante di
- JAZZ HEALTHCARE ITALY S.R.L
Domande frequenti
L'evento è accreditato per: Medico Chirurgo (Neuropsichiatria Infantile, Pediatria, Neurofisiopatologia); Tecnico Di Neurofisiopatologia (Iscritto Nell’Elenco Speciale Ad Esaurimento); Infermiere Pediatrico (Infermiere Pediatrico); Medico Chirurgo (Neurologia, Pediatria (Pediatri Di Libera Scelta)); Tecnico Di Neurofisiopatologia (Tecnico Di Neurofisiopatologia); Infermiere (Infermiere).
Fonte dati per questo evento: Agenas. Evento organizzato da provider terzo. Smart ECM riporta dati pubblici dell'evento a scopo informativo e non è responsabile né del corso né dei contenuti, né ha accordi commerciali o di collaborazione con il provider.