Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy

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...

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Autores principales: Rajaprakash, Meghna, Richer, Julie, Sell, Erick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222037/
https://www.ncbi.nlm.nih.gov/pubmed/30425922
http://dx.doi.org/10.1016/j.ebcr.2018.09.009
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author Rajaprakash, Meghna
Richer, Julie
Sell, Erick
author_facet Rajaprakash, Meghna
Richer, Julie
Sell, Erick
author_sort Rajaprakash, Meghna
collection PubMed
description 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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spelling pubmed-62220372018-11-13 Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy Rajaprakash, Meghna Richer, Julie Sell, Erick Epilepsy Behav Case Rep Article 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. Elsevier 2018-10-09 /pmc/articles/PMC6222037/ /pubmed/30425922 http://dx.doi.org/10.1016/j.ebcr.2018.09.009 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Rajaprakash, Meghna
Richer, Julie
Sell, Erick
Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
title Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
title_full Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
title_fullStr Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
title_full_unstemmed Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
title_short Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
title_sort valproic acid as a monotherapy in drug-resistant methyl-cpg-binding protein 2 gene (mecp2) duplication-related epilepsy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222037/
https://www.ncbi.nlm.nih.gov/pubmed/30425922
http://dx.doi.org/10.1016/j.ebcr.2018.09.009
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