Dravet Syndrome Report
Dravet Syndrome
Dravet Syndrome is a refractory epileptic encephalopathy, occurring in otherwise healthy children. Onset generally occurs in the first year of life with clonic/tonic-clonic, unilateral and generalized seizures occurring every 1-2 months associated with fever. Generalized or hemiclonic status epilepticus, myoclonia, atypical absences, complex partial seizures may also occur. The pathology progresses with delayed psychomotor development, ataxia and movement disorders. Photosensitivity may also be present. The underlying genetic defects (usually de novo mutations) affect, in 80% of cases, the SCN1A gene, which codes for the sodium ion channel. A positive family history of epilepsy or febrile convulsions affects approximately 25% of affected individuals.
1 genes analyzed
It is recommended if:
Genetic testing can be particularly useful in very young children, when the clinical picture alone is not enough to obtain the diagnosis.
List of main conditions:
- Dravet Syndrome
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