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Published on: September 20, 2024
Dravet Syndrome: A Rare Form of Epilepsy
Salwa Al Hosani1, Sona Varghese1
1Department of Psychiatry Sheikh Khalifa Medical City, P.O. Box 51900, Abu Dhabi, UAE.
Abstract:
Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene SCN1A. We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists.
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