Dravet Syndrome Treatment in Turkey

What is Dravet Syndrome?

Dravet Syndrome is a developmental and epileptic encephalopathy that typically begins during the first year of life in an otherwise normally developing infant. Seizures are often prolonged, may be triggered by fever or temperature changes, and can become difficult to control. As the condition progresses, other seizure types, developmental delays, movement and coordination difficulties, behavioural concerns, and learning problems may develop.

What is the Importance of Timely Treatment?

Timely diagnosis and treatment help control seizures, reduce prolonged seizure episodes and seizure-related injuries, monitor developmental changes, and provide appropriate supportive therapies. Early specialist management is particularly important because some commonly used antiseizure medicines can worsen seizures in people with Dravet Syndrome.

What are the common symptoms of Dravet syndrome?

• Frequent and prolonged seizures, often triggered by fever or changes in body temperature.
• Different types of seizures, including convulsive, absence, myoclonic, and focal seizures.
• Developmental delays, especially as the child grows.
• Speech and language difficulties.
• Problems with balance and coordination.
• Behavioural and learning difficulties.

Causes and Risk Factors of Dravet Syndrome

Causes

• Gene Variant: Most cases involve a pathogenic variant in a gene that helps control electrical activity in brain cells.
• Changes in neural function: These changes can affect how sodium channels work, making brain cells more likely to produce seizures.
• Genetic Changes: In most cases, the genetic change develops later in the child and is not passed down by either parent.
• Other Genetic Causes: A small proportion of patients may have Dravet-like epilepsy associated with other genetic abnormalities.
• Unknown Cause: In some clinically suspected cases, clinicians may not initially identify a specific genetic cause.

Risk Factors

• Early-Onset Seizures: Seizures beginning during infancy, particularly prolonged or hemiclonic seizures, are an important clinical feature.
• Fever-Associated Seizures: Seizures frequently associated with fever or temperature changes may raise suspicion.
• Family History: A family history is uncommon because most cases result from new genetic changes, although inherited variants can occasionally occur.
• Seizure Characteristics: Prolonged, recurrent, or multiple seizure types during infancy may be associated with the condition.

Latest Research and Technologies in the Treatment of Dravet Syndrome in Turkey

• Recent advances in Dravet Syndrome care include genetic testing, prolonged video-EEG monitoring, advanced brain imaging, precision seizure management, and newer antiseizure therapies. Turkey’s leading epilepsy and academic centers are also following new genetic and precision treatments being studied worldwide. Research is also exploring gene-targeted treatments, antisense oligonucleotides, and gene therapy approaches.