在结核性硬化综合症中的治疗方法的不断变化的景观
Giovanni Vitale1, Gaetano Terrone2, Samuel Vitale3
1Neuroscience and Rare Diseases, Discovery and Translational Area, Roche Pharma Research and Early Development (pRED), F. Hoffmann-La Roche, 4070 Basel, Switzerland.
Biomedicines
|December 23, 2023
概括
结核性硬化综合体 (TSC) 是一种导致瘤的遗传疾病,通常导致难以治疗的. 本综述综合了关于TSC的当前知识.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
背景情况:
- 结核性硬化综合体 (TSC) 是一种罕见的遗传疾病,其特征是多个器官的良性瘤生长.
- TSC1或TSC2基因的突变破坏了哈马丁-图贝林复合体,导致mTOR通路过度活化和不受控制的细胞生长.
- 神经学表现,特别是,影响高达90%的TSC患者,并且往往不耐治疗.
研究的目的:
- 为了提供一个全面的概述的致病,临床表现和治疗的神经特征在TSC.
- 综合TSC神经病理学,药理疗法和向治疗的关键进展.
- 巩固当前的理解,并突出TSC神经生物学和管理的未来研究领域.
主要方法:
- 关于TSC相关文献的叙事综述,没有日期限制.
- 综合关于TSC神经病理学,传统和新兴药理疗法以及向治疗的信息.
- 专注于神经学的方面和TSC的管理.
主要成果:
- 是TSC的主要神经特征,婴儿和焦点发作是常见的.
- 在TSC中耐药性显著导致患者的发病率和死亡率.
- 巩固了关于TSC神经生物学和治疗策略的当前知识.
结论:
- 了解TSC神经生物学和基于证据的治疗策略对于优化患者护理至关重要.
- 这篇评论是临床医生和研究人员的宝贵参考资料.
- 需要进一步的研究来改善TSC患者的治疗结果.
相关概念视频
Arteries of the Lower Limbs
191
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...
191
Antiepileptic Drugs: GABAergic Pathway Potentiators
412
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...
412
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
307
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...
307
Antiepileptic Drugs: Glutamate Antagonists
376
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...
376
Antiepileptic Drugs: Sodium Channel Blockers
581
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...
581
Antiepileptic Drugs: Potassium Channel Activators
184
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...
184


