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| Disease found: | Dravet Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Severe form of epilepsy with frequent, prolonged seizures triggered by hyperthermia, developmental delay, speech impairment, ataxia, and hypotonia |
| Signs and Symptoms: | Typical onset between 1 and 18 months, most often <12 months; Seizures lasting >5 minutes, worsening gait, hypotonia ataxia, and speech delay |
| Diagnosis: | Clinical diagnosis including (occasionally hyperthermia induced) seizures; normal development, neurological exam, MRI, and normal or nonspecific EEG findings at onset |
| Treatment: | Anti-seizure medications (clobazam and valproic acid first-line), epidiolex (CBD), fenfluramine |
| Clinical Management: | Management of frequent status epilepticus |
| Referral: | Neurologists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Multiple clinical trials recruiting on clinicaltrials.gov (gene therapy, fenfluramine, TMS) |