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Neuromuscular diseases

Dravet syndrome

A severe type of epilepsy that begins in infancy. Seizures are frequent and long, and are often triggered by fever. Development is also affected.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, Polish, English, Italian, Portuguese). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Neuromuscular diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Dravet syndrome is a genetic type of epilepsy. There is usually a change in a gene called SCN1A. Seizures begin in the first year of life, in a baby who was healthy before. In the second and third years, developmental delay becomes noticeable.

Which symptoms can occur?

Symptoms can vary from child to child.

  • Long seizures that affect the whole body or one side
  • Seizures brought on by fever, a hot bath, illness or tiredness
  • Other types of seizures that begin before the age of five
  • Delay in speech and development
  • Balance problems and floppy muscles
  • Sleep and behavior problems

How is it diagnosed?

The diagnosis is made by looking at the features of the seizures. A genetic test for epilepsy genes is recommended. A gene change alone is not enough for the diagnosis. In the first years, the EEG, a brain wave test, and the MRI are often normal.

Treatment and care

There is no cure for the disease, but seizures can be reduced. Epilepsy medicines are used. Some epilepsy medicines can make seizures worse, so the choice is important. There are approved medicines specific to this disease. The ketogenic diet, a special diet rich in fat, may help. In some children a nerve-stimulating device is also used. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

About 90% of gene changes arise new in the child. This means they were not passed on from the parents. In families where it is inherited, the risk is 1 in 2 in each pregnancy. In these families, the parent may have mild epilepsy or no symptoms at all. Even if it seems to have arisen new, genetic counselling is recommended.

Source: NORD: Dravet Syndrome Spectrum · Orphanet: Dravet syndrome (ORPHA:33069)

Key facts

How is it inherited?
Autosomal dominant
When does it usually start?
Infancy, Newborn period
Gene(s) involved
SCN1A, SCN1B, SCN2A, GABRA1, GABRG2, PCDH19
Reliable sources
Orphanet

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Dravet syndrome

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 18 active interventional studies for this disease. 9 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Neuromuscular diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:33069 · ICD-11 8A61.11

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.