Dravet syndrome

Dravet syndrome is a rare, severe developmental and epileptic encephalopathy that typically presents during the first year of life in otherwise developmentally normal infants Affecting the central nervous system, it is predominantly driven by loss-of-function variants in the SCN1A gene, which encodes the alpha-1 subunit of voltage-gated sodium channels critical for inhibitory neuronal function The condition is clinically characterized by prolonged, drug-resistant convulsive seizures—often febril...

Dravet syndrome is a rare, severe developmental and epileptic encephalopathy that typically presents during the first year of life in otherwise developmentally normal infants Affecting the central nervous system, it is predominantly driven by loss-of-function variants in the SCN1A gene, which encodes the alpha-1 subunit of voltage-gated sodium channels critical for inhibitory neuronal function The condition is clinically characterized by prolonged, drug-resistant convulsive seizures—often febril...

The condition is clinically characterized by prolonged, drug-resistant convulsive seizures—often febrile, hemiclonic, or generalized tonic-clonic—with a marked susceptibility to status epilepticus

As the disease progresses, children often develop diverse seizure types, motor and gait abnormalities, sleep disturbances, and progressive neurodevelopmental delays leading to intellectual disability