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Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related
Meghna Rajaprakash1,2, Julie Richer3,4, Erick Sell1,4
1Department of Pediatric Neurology, Children's Hospital of Eastern Ontario (CHEO), 401 Smyth Road, Ottawa, ON K1H 8L1, Canada.
Abstract:
Duplication of the methyl-CpG-binding protein 2 gene (MECP2) is a rare condition that results in epilepsy in half of the cases. Although this condition has been well characterized in the literature, there is a lack of research on MECP2 duplication-related epilepsy and its management. We present the case of an eleven-year old male with MECP2 duplication and epilepsy, who was resistant to polytherapy. The patient responded well to valproic acid (VPA) initially and upon re-challenge. This case report provides evidence for the use of VPA as an initial monotherapy for treatment of drug-resistant MECP2 duplication-related epilepsy.
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