Dravet syndrome

A rare genetic epileptic encephalopathy

Dravet syndrome, also known as severe myoclonic epilepsy of infancy, is a rare and catastrophic form of epilepsy that begins in infancy. It is characterized by prolonged seizures that are often triggered by high temperatures or fever. Dravet syndrome is a lifelong condition that can significantly impact the quality of life of affected individuals and their families.

Presentation

Dravet syndrome typically presents in the first year of life with febrile seizures, which are seizures associated with fever. These seizures are often prolonged and can last more than 5 minutes. As the child grows, other types of seizures may develop, including myoclonic seizures, tonic-clonic seizures, and absence seizures.

Children with Dravet syndrome often experience developmental delays and may have difficulty with speech and motor skills. Ataxia, or problems with balance and coordination, is also common. Behavioral issues, such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD), may also be present.

Genetics

Dravet syndrome is most commonly caused by mutations in the SCN1A gene, which encodes a subunit of a sodium channel that is critical for the proper functioning of neurons. These mutations are usually de novo, meaning they occur spontaneously and are not inherited from the parents. However, in some cases, the mutation can be inherited in an autosomal dominant manner.

Diagnosis

The diagnosis of Dravet syndrome is based on clinical criteria and genetic testing. A detailed medical history and electroencephalogram (EEG) are essential for diagnosis. Genetic testing can confirm the presence of mutations in the SCN1A gene or other related genes.

Management

There is currently no cure for Dravet syndrome, and treatment focuses on managing seizures and improving quality of life. Antiepileptic drugs (AEDs) are the mainstay of treatment, but many children with Dravet syndrome have drug-resistant epilepsy. Medications such as stiripentol, clobazam, and valproate are commonly used.

In addition to medication, other treatments such as the ketogenic diet, vagus nerve stimulation, and cannabidiol (CBD) may be beneficial for some patients. Supportive therapies, including physical therapy, occupational therapy, and speech therapy, are important for addressing developmental delays and improving daily functioning.

Prognosis

The prognosis for individuals with Dravet syndrome varies. While some individuals may experience a reduction in seizure frequency as they age, others may continue to have frequent and severe seizures. Developmental and cognitive impairments are common, and individuals with Dravet syndrome often require lifelong care and support.

Related pages

• Epilepsy
• Myoclonic seizure
• SCN1A
• Autism spectrum disorder
• Attention deficit hyperactivity disorder

External links

Classification	ICD-10: G40.3 OMIM: 607208 DiseasesDB: 33728
External resources	Orphanet: 33069

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