Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome

IF 4.3 2区 医学 Q1 CLINICAL NEUROLOGY Developmental Medicine and Child Neurology Pub Date : 2025-01-03 DOI:10.1111/dmcn.16231
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Abstract

Glucose transporter type 1 deficiency syndrome (Glut1DS) is a neurological disorder caused by metabolic disturbances in the brain. Apart from epileptic seizures, various paroxysmal symptoms can occur as transient brain dysfunction triggered by energy deficits, often following prolonged fasting or exercise. Thus, Glut1DS presents with chronic neurological symptoms, including cognitive impairment, movement disorders (e.g. ataxia, spasticity, and dystonia), and both epileptic and non-epileptic seizures.

Non-epileptic seizures associated with Glut1DS are essentially situation-related events provoked and ameliorated by specific factors. As is true in other inborn errors of metabolism, misdiagnosis of these paroxysmal events as epileptic seizures may lead to an erroneous diagnosis of pharmaco-resistant epilepsy due to poor response to conventional antiseizure medications. This can result in unnecessary or inappropriate treatments.

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谷氨酸缺乏症非癫痫性发作与癫痫性发作的鉴别。
葡萄糖转运蛋白1型缺乏综合征(Glut1DS)是一种由大脑代谢紊乱引起的神经系统疾病。除了癫痫发作外,能量不足通常在长时间禁食或运动后引发的短暂性脑功能障碍也会出现各种发作性症状。因此,Glut1DS表现为慢性神经系统症状,包括认知障碍、运动障碍(如共济失调、痉挛和肌张力障碍)以及癫痫性和非癫痫性发作。与Glut1DS相关的非癫痫性发作本质上是由特定因素引起和改善的情境相关事件。与其他先天性代谢错误一样,由于对常规抗癫痫药物反应不佳,将这些阵发性事件误诊为癫痫发作可能导致药物抵抗性癫痫的错误诊断。这可能导致不必要或不适当的治疗。
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来源期刊
CiteScore
7.80
自引率
13.20%
发文量
338
审稿时长
3-6 weeks
期刊介绍: Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA). For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.
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