Abstract
The pathology of Dravet syndrome is of particular importance in children. In this article we analyze the involvement of the SCN1A gene in Dravet syndrome, we approach the new treatment strategies in Dravet syndrome.
Highlights
Dravet syndrome (DS), known as severe myoclonic epilepsy of infants, was first described by Charlotte Dravet in 1978
80% of DS patients have a mutation of the SCN1A gene, which is involved in the Corresponding author: Gabriel Samasca E-mail: gabriel.Samasca@umfcluj.ro
These channelopathies are associated with a broad epileptic spectrum, from genetic epilepsy with febrile seizures (GEFS) to developmental encephalopathy (DEE)
Summary
Dravet syndrome (DS), known as severe myoclonic epilepsy of infants, was first described by Charlotte Dravet in 1978. DS is characterized by seizures that start to manifest before 1 year of age, usually during fever. New types of seizures may appear between 1 and 2 years of age: absence seizures, myoclonic seizures, or generalized tonic-clonic seizures. Psychomotor development is usually normal until 1 year of age, later, alongside the diversification of the seizure types; mental stagnation will usually be present.
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