Dravet Syndrome

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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

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

Sources

No data available

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