Dear friends and colleagues,
On the occasion of 40 years since Dravet Syndrome was first defined, and 8 years after organizing the first Workshop in Verona, we are very pleased to invite you once again to this magnificent city for the "Dravet Syndrome and Other Sodium Channel Related Encephalopathies" International Symposium.
The Symposium consists of two days focusing on scientific research relating to genes SCN1A, SCN2A and SCN8A.
The study of epilepsy and the care of children have changed remarkably in recent years, after the identification of the genetic causes of some epilepsy syndromes. The main epilepsy gene- the sodium channel alpha 1 (SCN1A) - has been linked to Dravet Syndrome, to a number of less severe forms of epilepsy, and to febrile convulsions. However, more than 15 years after the causative role of this gene was identified in these forms, and in spite of the large number of patients identified, the spectrum of clinical manifestations associated with SCN1A mutations continues to be enriched by new phenotypes and only recently has enough evidence has been collected to foresee to what extent early clinical and genetic predictors seem to influence prognosis. Thanks to the advent of next-generation sequencing, the process that will eventually lead to fully highlight the phenotypical spectrum, long-term outcome, and role of genetic variation in the epilepsies associated with mutations of the other two main sodium channel genes associated with epilepsy - SCN2A and SACN8A- will hopefully be quicker but is until now nonetheless proving relatively slow.
Even slower, and particularly complex, is the process that has led to the gathering of evidence on the sensitivity of these conditions to medication. It has taken more than 16 years since the first controlled trial demonstrated the efficacy of add-on stiripentol in Dravet syndrome, before new trials to test the efficacy of two different molecules, fenfluramine and canabidiol, were launched in this same syndrome, and none seems to be on the horizon for the conditions associated with SCN2A- and SCN8A-related epilepsies.
In order to address the main clinical, genetic and treatment issues that concern
families, the specialists, and basic researchers alike; to explore to what extent disorders arising from mutations in this gene family overlap and differ; to better define the specific burden of comorbidities; and to explore the bases for rational treatment approaches, we have organized a thematic workshop to gather world-leading specialists in Verona to discuss available evidence and perspectives for future developments.
It will be a pleasure to share these two days of scientific research with you.
On behalf of scientific committee
Bernardo Dalla Bernardina, Renzo Guerrini
VERONA 2018
VERONA 2018
09. Prof. Lieven Lagae - Where are we with treatment options? Fenfluramine in Dravet syndrome
28. Dr. Andreas Brunklaus - The genetics of SCN2A
27. Dr. Markus Wolff - Phenotypic spectrum of SCN2A
02. Dr. Jeffrey Noebels - Sodium Channel and Human Disease
On the 40th anniversary of the first description of Dravet Syndrome and 8 years after the first International Workshop held in Verona on the subject, we are pleased to announce that the International Symposium on the theme "Dravet Syndrome and Other Channel Related Encephalopathies “.
Furthermore, at the end of the International Symposium, a satellite Symposium in Italian will take place on Saturday 17 March dedicated to the different aspects of Dravet Syndrome which, as we know, is a form of epilepsy burdened not only by the recurrence of often drug-resistant and persistent crises over time. but also from multiple comorbidities that in many cases severely compromise the cognitive and neuromotor profile, learning, autonomy, psychoaffective and relational sphere, and seriously over time the quality of life of patients and their families.
The main objective of the Satellite Symposium, organized in collaboration with the Italian associations dedicated to Dravet Syndrome, is to provide scientifically updated information, useful for a more global and effective management of the different aspects of the syndrome in the different periods of life, involving not only the epileptic experts but also and above all all the actors (Pediatricians, Child Neuropsychiatrists, Family Doctors, Neurologists, Psychologists, Rehabilitators, Dietitians, Families, etc.) who are called to guarantee the best possible quality of life for people affected and their families. All this not only in the early phase of diagnosis but throughout the entire life span.
The Scientific Committee, together with the Dravet Italia Onlus associations and the Dravet Onlus Families Group, hoping for a lively participation, are pleased to invite you to this important day.