Article
Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review).
Epilepsia open - 1 Dec 2023
Du Xiaoping, Lian Shizhong, Sun Meizhen, Li Ruilong, Wang Huifang, Yang Xiaoping, Wang Huifen, Zhang Xiaobin, Wang Fengpeng, Yao Yi, Guo Junhong
Abstract excerpt
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....
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