Dravet syndrome and other sodium channel‐related encephalopathies

Dravet syndrome and other sodium channel‐related encephalopathies:

Dear friends and colleagues,



On March the 15 and 16, 2018, an International Symposium took place in Verona, Italy, focusing on clinical and basic research relating to the genes SCN1A, SCN2A, and SCN8A. The meeting was kindly supported by Dravet Italia Onlus, Biocodex, GW Pharma, Zogenix, Fondazione Cattolica, BPM, Eisai, Nutricia, Sandoz, Ecu‐Pharma, and FB Health.



The study of epilepsy and the care of affected children has changed remarkably in recent years, following the discovery of genetic causes of some epilepsy syndromes. The main epilepsy gene, SCN1A (sodium channel alpha 1), has been linked to Dravet syndrome, to a number of less severe forms of epilepsy, and to febrile convulsions. However, >15 years after the causative role of this gene was identified, and despite the large number of patients diagnosed, the spectrum of clinical manifestations associated with SCN1A mutations continues to be enriched by new phenotypes and only recently has enough evidence been collected to foresee to what extent early clinical and genetic predictors may influence prognosis. Only very recently, the therapeutic armamentarium has been widened with drugs for which evidence of efficacy has been obtained through controlled trials. Thanks to the advent of next generation sequencing, a process has started, whereby the phenotypical spectrum, long‐term outcome, role of genetic variation, and treatment options in epilepsies associated with mutations of two other major epilepsy‐related sodium channel genes, SCN2A and SACN8A, are being progressively elucidated. To address, with the purpose of accelerating, this process of knowledge and stimulate new developments of sodium channel–related epilepsies, this symposium gathered world‐leading specialists. The main evidence and new perspectives presented and discussed at the meeting have been summarized in this supplement of Epilepsia.



CONFLICT OF INTEREST

None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a type of epilepsy with seizures that are often triggered by hot temperatures or fever. It is treated with anticonvulsant medications. It often begins around six months of age.

Dravet syndrome - Wikipedia

https://en.wikipedia.org › wiki › Dravet_syndrome