Dravet Syndrome

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

Severe form of epilepsy with frequent, prolonged seizures triggered by hyperthermia, developmental delay, speech impairment, ataxia, and hypotonia

Common symptoms

Typical onset between 1 and 18 monthsmost often 5 minutesworsening gaithypotonia ataxiaand speech delay

When to suspect

  • Recommendation 1

    Clinical diagnosis including (occasionally hyperthermia induced) seizures

  • Recommendation 2

    normal development, neurological exam, MRI, and normal or nonspecific EEG findings at onset

How to test

  • Recommendation 1

    Clinical diagnosis including (occasionally hyperthermia induced) seizures

  • Recommendation 2

    normal development, neurological exam, MRI, and normal or nonspecific EEG findings at onset

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Anti-seizure medications (clobazam and valproic acid first-line), epidiolex (CBD), fenfluramine

Primary care

  • Recommendation 1

    Management of frequent status epilepticus

Further support

  • Recommendation 1

    Neurologists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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