音乐性发作-STXBP1脑病变与反射性发作
Nimit N Desai1, Carlos Guerrero2, Maysen Mesaros1
1Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USA.
这项研究报告了18岁的Sintaxin结合蛋白1 (STXBP1) 脑病变的患者首例音乐性发作. 听觉刺激可靠地触发了刻板印象的发作,扩大了已知的STXBP1相关疾病的表型.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 发病学 (Epileptology) 是一个专业的学科.
背景情况:
- 合成素结合蛋白1 (STXBP1) 的突变与各种脑病变有关.
- STXBP1脑病变的表型谱正在扩大,但反射发作仍然未经记录.
研究的目的:
- 描述STXBP1脑病变患者中首次报告的音乐性和其他反射发作病例.
- 描述这些刺激诱导的的临床和电生理学特征.
主要方法:
- 一个18岁的女性确诊STXBP1遗传缺陷和婴儿史的案例研究.
- 详细的临床发作观察和特征在监测单元.
- 在特定的听觉刺激引发的诱导性发作期间进行EEG监测.
主要成果:
- 患者经历了刻板印象的发作,始终由听觉刺激引发,包括音乐和警报声音.
- 发作包括凝视,行为停止,眼睛向左偏差,强力硬化和呼吸困难.
- 脑电图显示在触发性发作期间的扩散性电解液,前部甲基和后部减速.
结论:
- 这一案例代表了STXBP1脑病变中音乐性和其他反射性发作的第一个记录实例.
- 这些发现扩大了对STXBP1相关现型的理解.
- 听觉刺激可以在具有STXBP1突变的个体中导致发作.
更多相关视频
06:58Non-restraining EEG Radiotelemetry: Epidural and Deep Intracerebral Stereotaxic EEG Electrode Placement
Published on: June 25, 2016
10:22Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
Published on: December 6, 2016
相关概念视频
Seizures: Classification
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
Arteries of the Lower Limbs
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Antiepileptic Drugs: Potassium Channel Activators
Ezogabine has gained approval as an adjunctive treatment...
Antiepileptic Drugs: GABAergic Pathway Potentiators
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
Antiepileptic Drugs: Sodium Channel Blockers
Sodium channel blockers modulate ion channels, particularly voltage-gated sodium channels. They block only sodium ion movement.
Among the most commonly prescribed antiepileptic drugs are...
