Knowra Dravet syndrome Dravet syndrome Dravet syndrome is a rare developmental and epileptic encephalopathy that usually begins in infancy with prolonged seizures. Most cases are associated with pathogenic variants in SCN1A.
SCN1A : SCN1A is a gene that encodes the Nav1.1 voltage-gated sodium channel, which supports electrical signaling in neurons. Pathogenic SCN1A variants account for most cases and can impair inhibitory interneuron function.
Developmental and epileptic encephalopathy : A developmental and epileptic encephalopathy is a disorder in which seizures and underlying brain dysfunction both contribute to developmental impairment. Dravet syndrome belongs to this group, with developmental difficulties often emerging after seizure onset.
Valproate : Valproate is an antiseizure medicine used to treat several seizure types and other conditions. It is commonly used as an initial maintenance treatment for Dravet-associated seizures.
Lennox–Gastaut syndrome : Lennox–Gastaut syndrome is a severe childhood-onset epilepsy marked by multiple seizure types, characteristic EEG patterns, and developmental impairment. Both disorders can cause drug-resistant seizures and developmental difficulties, but their onset and EEG patterns differ.
Intellectual disability : Intellectual disability is a condition involving significant limitations in intellectual functioning and adaptive behavior beginning during development. Many people with Dravet syndrome develop learning and adaptive difficulties over time.
Nav1.1 : Nav1.1 is a voltage-gated sodium channel encoded by SCN1A and expressed especially in inhibitory interneurons. Reduced Nav1.1 function helps explain why inhibitory circuits fail to restrain seizures.
Epilepsy : Epilepsy is a neurological disorder marked by an enduring tendency to have unprovoked seizures. Dravet is a specific epilepsy syndrome with characteristic onset, seizure types, and developmental effects.
Clobazam : Clobazam is a benzodiazepine antiseizure medicine used for seizure disorders, including Lennox–Gastaut syndrome. It is often combined with other medicines for long-term seizure control in Dravet syndrome.
GEFS+ : Genetic epilepsy with febrile seizures plus is a variable epilepsy spectrum often involving febrile seizures that persist beyond early childhood or additional seizure types. Some SCN1A variants cause GEFS+ rather than Dravet, illustrating a spectrum of severity.
Ataxia : Ataxia is impaired coordination of voluntary movements, often affecting balance, walking, and speech. Gait and coordination difficulties can emerge as part of the syndrome’s neurological effects.
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