A novel variant in SCN1A gene associated with Dravet syndrome


Epilepsies are a diverse collection of neurological disorders. Thirty percent of which have a genetic aetiology [1]. Variants in the SCN1Agene have been associated with severe myoclonic epilepsy in infancy (Dravet syndrome) [2]. It is a rare autosomal dominant disorder characterized by the appearance of seizures, usually prolonged hemi-clonic or generalized tonic-clonic type, in an otherwise healthy baby which could be triggered by various stressors. Generally, they start as febrile seizures which eventually occur in the absence of fever.


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