治疗SYN1相关发作的发作:一个系统性审查
Elisabeth Van Boxstael1, Eric Vigneul2, Susana Ferrao Santos3
1Department of Neurology, Cliniques Universitaires Saint-Luc, Av. Hippocrate 10, 1200, Brussels, Belgium.
Seizure
|June 24, 2025
概括
对于Synapsin1相关的,lacosamide,lamotrigine,carbamazepine和oxcarbazepine提供比酸或 levetiracetam更好的控制. 管阻塞剂是治疗这种罕见的综合征中发作的首选疗法.
科学领域:
- 的研究研究.
- 神经遗传学 神经遗传学
- 药理学 药理学是指药理学的学科.
背景情况:
- 与synapsin1相关的是一种罕见的疾病,其特征是反射性发作,通常是由水接触引发的.
- 患有突触素1基因 (SYN1) 致病变异的患者也可能出现发育迟缓和行为问题.
- 对SYN1相关的最佳抗发作药物 (ASM) 策略仍未确定.
研究的目的:
- 系统地审查和比较不同抗发作药物 (ASM) 治疗Synapsin1相关的疗效.
- 确定在患有SYN1基因变异的患者中减轻和释放最有效的ASM.
主要方法:
- 使用PubMed和Embase数据库进行了系统的文献审查,遵守PRISMA指南.
- 包括的研究集中在与ASM治疗的SYN1相关患者的发作结果上.
- 不包括非英语文章,海报,评论和会议摘要.
主要成果:
- 分析了8项涉及52名患者的研究.
- 酸 (VPA) 是最常被处方的 (58%),但胺酸 (LCM) (50%),糖 (OXC) (44%) 和糖 (CBZ) (38%) 的无率较高.
- 在考虑发作自由或显著减少 (≥50%) 时,拉莫 (LTG) (63%),LCM (50%) 和CBZ (50%) 显示出最好的结果. LTG,CBZ,OXC和LCM比 levetiracetam (LEV) 或VPA更有效 (p=0.028用于减少,p=0.047用于非截断变体的自由).
结论:
- 与酸 (VPA) 和 levetiracetam (LEV) 相比,lacosamide (LCM),lamotrigine (LTG),carbamazepine (CBZ) 和oxcarbazepine (OXC) 在减少与SYN1相关的发作频率方面更有效.
- 通道阻断剂 (LTG,CBZ,OXC,LCM) 是一种有前途的治疗方法,用于治疗这种综合征的发作.
- 尽管VPA通常被处方,证据表明,替代ASM产生优越的控制.
相关概念视频
Epilepsy and Seizures: Overview
296
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
296
Seizures: Classification
612
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
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:
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:
612
Antiepileptic Drugs: GABAergic Pathway Potentiators
681
γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
The key GABA pathway potentiators used in epilepsy management are as follows.
Benzodiazepines are a well-known class of drugs used for...
681
Antiepileptic Drugs: Sodium Channel Blockers
950
Antiepileptic drugs are specialized medications that prevent seizures in individuals diagnosed with epilepsy. These drugs primarily function by blocking the movement of sodium ions through channels in the neuronal membrane, inhibiting the repetitive firing of action potentials often associated with seizures.
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...
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...
950
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
461
Antiepileptic drugs, such as levetiracetam (Keppra) and brivaracetam (Briviact), have emerged as crucial tools in managing epilepsy. These medications exert their therapeutic effects by targeting the synaptic vesicle protein SV2A, a transmembrane glycoprotein primarily found in the brain.
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...
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...
461
Antiepileptic Drugs: Glutamate Antagonists
527
Glutamate is a fundamental neurotransmitter in the central nervous system, playing a vital role in neuronal communication and various cognitive processes. Glutamate stands as the principal excitatory neurotransmitter in the brain. Its presence is crucial for the communication between neurons, underpinning essential processes such as synaptic transmission, neuronal excitability, and plasticity. These functions are vital for higher-order cognitive processes, including learning and memory. The...
527


