DRAVET SYNDROME

The cover of 'Rare Disease Series #14 DRAVET SYNDROME

About DRAVET SYNDROME

Chromosome 7 and the location of Dravet syndrome related SCN1A gene.
DRAVET SYNDROME is a severe form of rare genetic seizure disorder, which symptoms include frequent and prolonged seizures.
80~90% of its cases occur from mutations in the SCN1A gene on chromosome 2.

PREVALENCE / ONSET

Map background and words showing Dravet syndrome's global prevalence and national prevalence of the UK and the US
Prevalence
Dravet syndrome affects approximately 1 in 40,000 globally. It is estimated to affect 1 in 28,000 individuals in the UK and 1 in 15,700 in the US.

Onset
The symptoms of Dravet syndrome are present within a year after birth.

SYMPTOMS

Six symptoms of Dravet syndrome: Prolonged and frequent seizures, loss of developmental skills, intellectual disability, problems with walking, speech impairment, autistic-like behavior

DIAGNOSIS

The diagnosis of Dravet syndrome is based on finding its unique characteristics from clinical evaluation.
Genetic testing for SCN1A mutation and other epilepsy-related genes can help confirm the diagnosis.

INHERITANCE PATTERN

A family tree showing autosomal dominant inheritance pattern of Dravet syndrome.
90% of Dravet syndrome cases occur from new(de novo) mutations in the SCN1A gene. However, in some cases, it has been found to inherit in an autosomal dominant pattern.

TREATMENTS

  1. ic-treatments-black@3x-3
  2. Currently, there is no cure for Dravet syndrome. Most treatments focus on reducing the frequency and length of seizures.

    The medications used to treat seizures can be grouped into ‘First Line,’ ‘Second Line,’ and ‘Third Line’ depending on the severity of the seizures.

    Rescue medications could also be necessary to stop prolonged seizures in emergencies.

    You can find the list of the medications at NORD, Dravet Syndrome Foundation, or dravetsyndromenews.