相关实验视频
Updated: Mar 3, 2026

08:51
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
5.4K
与突触体关联蛋白25 (SNAP25) 相关的插曲性动症变体:超越和发育迟缓
Inês F Fernandes1,2, Ana Cristina Figueiredo1, João Parente Freixo3
1Pediatrics, São Bernardo Hospital, Arrábida Local Health Unit, Setúbal, PRT.
Cureus
|March 2, 2026
概括
一种新的SNAP25基因变异会导致儿童发育性和性脑病变 (DEE),出现和偶发性性心力衰竭. 这一发现扩大了已知的DEE遗传原因.
科学领域:
- 神经遗传学 神经遗传学
- 发育神经科学的发展神经科学.
- 发病学 (Epileptology) 是一个专业的学科.
背景情况:
- 发育性和性脑病变 (DEE) 是一种严重的早期发作的神经系统疾病.
- 突触体相关蛋白25 (SNAP25) 基因变异是已知的DEE的原因.
- SNAP25对于预突触SNARE复合体至关重要,对于神经递质释放至关重要.
研究的目的:
- 在SNAP25基因中报告一种新的 de novo splice-site变异.
- 扩大SNAP25相关DEE的已知的突变和表型谱.
- 描述SNAP25-DEE患者发烧性疾病引发的突发性动脉的独特表现.
主要方法:
- 一个男性婴儿的临床病例呈现,患有早期发作和发育迟缓.
- 进行了神经学检查,脑部MRI和EEG.
- 整体外基因组测序在SNAP25中发现了一个de novo拼接位变异 (NM_003081.5:c.114+2dup).
主要成果:
- 该患者出现了因发烧性疾病引发的发烧性发作,全身发育迟缓,轻度小头症和偶发性步行动力衰竭.
- 基因测试证实SNAP25中可能存在一种致病性,de novo拼接部位变异.
- 用 levetiracetam 控制了发作,但全球发育延迟持续中度.
结论:
- 这一案例扩大了与SNAP25相关的DEE的基因型和表型谱.
- 发烧性疾病引发的偶发性动脉是一种新发现的SNAP25-DEE的表现.
- 早期诊断和SNAP25-DEE的管理对于潜在的神经发育进展至关重要.
更多相关视频
相关概念视频
Seizures: Classification
1.9K
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:
1.9K
Epilepsy and Seizures: Overview
1.5K
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...
1.5K
Antiepileptic Drugs: Potassium Channel Activators
867
Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
Ezogabine has gained approval as an adjunctive treatment...
867
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
1.0K
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...
1.0K
Antiepileptic Drugs: GABAergic Pathway Potentiators
1.5K
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...
1.5K
Antiepileptic Drugs: Glutamate Antagonists
1.1K
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...
1.1K

