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Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)

Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is considered the most serious “epileptic encephalopathy.” Here, we present a man with a de novo SCN1A mutation who was diagnosed with DS at the age of 29. In addition to pharmaco‐resistant seizures and cognitive...

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Autores principales: Du, Xiaoping, Lian, Shizhong, Sun, Meizhen, Li, Ruilong, Wang, Huifang, Yang, Xiaoping, Wang, Huifen, Zhang, Xiaobin, Wang, Fengpeng, Yao, Yi, Guo, Junhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690644/
https://www.ncbi.nlm.nih.gov/pubmed/37418349
http://dx.doi.org/10.1002/epi4.12780
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author Du, Xiaoping
Lian, Shizhong
Sun, Meizhen
Li, Ruilong
Wang, Huifang
Yang, Xiaoping
Wang, Huifen
Zhang, Xiaobin
Wang, Fengpeng
Yao, Yi
Guo, Junhong
author_facet Du, Xiaoping
Lian, Shizhong
Sun, Meizhen
Li, Ruilong
Wang, Huifang
Yang, Xiaoping
Wang, Huifen
Zhang, Xiaobin
Wang, Fengpeng
Yao, Yi
Guo, Junhong
author_sort Du, Xiaoping
collection PubMed
description Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is considered the most serious “epileptic encephalopathy.” Here, we present a man with a de novo SCN1A mutation who was diagnosed with DS at the age of 29. In addition to pharmaco‐resistant seizures and cognitive delay, he also developed moderate to severe motor and gait problems, such as crouching gait and Pisa syndrome. Moreover, it deteriorated significantly following an epileptic seizure. The patient presented with severe flexion of the head and trunk in the sagittal plane and fulfilled the diagnostic criteria for camptocormia and antecollis. After a week, it spontaneously alleviated partially. We applied levodopa to the patient and had a good response. Functional Gait Assessment (FGA) was assessed at three different times: 4 days after the seizure, 1 week after the seizure, and after taking levodopa for 2 years. The results were 4, 12, and 19 points, respectively. We postulated that: (1) gait and motor deficits are somehow influenced by recurrent epileptic episodes;(2) the nigrostriatal dopamine system is involved. To our knowledge, we were the ones who first reported this phenomenon.
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spelling pubmed-106906442023-12-02 Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review) Du, Xiaoping Lian, Shizhong Sun, Meizhen Li, Ruilong Wang, Huifang Yang, Xiaoping Wang, Huifen Zhang, Xiaobin Wang, Fengpeng Yao, Yi Guo, Junhong Epilepsia Open Short Research Articles Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is considered the most serious “epileptic encephalopathy.” Here, we present a man with a de novo SCN1A mutation who was diagnosed with DS at the age of 29. In addition to pharmaco‐resistant seizures and cognitive delay, he also developed moderate to severe motor and gait problems, such as crouching gait and Pisa syndrome. Moreover, it deteriorated significantly following an epileptic seizure. The patient presented with severe flexion of the head and trunk in the sagittal plane and fulfilled the diagnostic criteria for camptocormia and antecollis. After a week, it spontaneously alleviated partially. We applied levodopa to the patient and had a good response. Functional Gait Assessment (FGA) was assessed at three different times: 4 days after the seizure, 1 week after the seizure, and after taking levodopa for 2 years. The results were 4, 12, and 19 points, respectively. We postulated that: (1) gait and motor deficits are somehow influenced by recurrent epileptic episodes;(2) the nigrostriatal dopamine system is involved. To our knowledge, we were the ones who first reported this phenomenon. John Wiley and Sons Inc. 2023-10-06 /pmc/articles/PMC10690644/ /pubmed/37418349 http://dx.doi.org/10.1002/epi4.12780 Text en © 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Short Research Articles
Du, Xiaoping
Lian, Shizhong
Sun, Meizhen
Li, Ruilong
Wang, Huifang
Yang, Xiaoping
Wang, Huifen
Zhang, Xiaobin
Wang, Fengpeng
Yao, Yi
Guo, Junhong
Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
title Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
title_full Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
title_fullStr Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
title_full_unstemmed Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
title_short Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
title_sort epileptic seizures worsen the gait and motor abnormalities in adult patients with dravet syndrome (with a case report and literature review)
topic Short Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690644/
https://www.ncbi.nlm.nih.gov/pubmed/37418349
http://dx.doi.org/10.1002/epi4.12780
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