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

IF 3.8 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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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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