的病例包括
Amy McTague1, Ingrid E Scheffer2, Dimitri M Kullmann3
1Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology, Great Ormond Street Hospital for Children, London, United Kingdom.
Handbook of clinical neurology
|August 22, 2024
概括
基因诊断显示的原因在离子通道基因中. 对通道病的早期遗传检测对于诊断,管理和开发向基因疗法至关重要.
科学领域:
- 神经遗传学 神经遗传学
- 发病学 (Epileptology) 是一个专业的学科.
- 分子医学是分子医学.
背景情况:
- 遗传诊断已经确定了许多的离子和带通道基因的致病变体.
- 通道病症代表了一大群具有不同临床表现的遗传性症疾病.
研究的目的:
- 描述与通道病变相关的的临床表现.
- 突出识别通道病变表型对于早期遗传检测和管理的重要性.
- 讨论对基因疗法发展的影响.
主要方法:
- 对与通道病变相关的临床表现的审查.
- 讨论特定的通道病变,包括SCN1A-德拉维特综合征.
- 探索可能表明通道病变的临床情景.
主要成果:
- 在通道基因中发现致病变体解释了许多.
- 道病变表现为经典综合征和新兴的基因特异性表型.
- 频道病变的表型谱正在扩大,影响诊断和治疗.
结论:
- 早期识别与通道病变相关的现象,对于及时进行遗传检测至关重要.
- 了解通道病变有助于开发有针对性的基因疗法.
- 这些发现对患者管理,预后和遗传咨询有影响.
相关概念视频
Seizures: Classification
309
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:
309
Arteries of the Lower Limbs
181
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...
181
Antiepileptic Drugs: Sodium Channel Blockers
462
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...
462
Antiepileptic Drugs: Glutamate Antagonists
301
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...
301
Antiepileptic Drugs: Potassium Channel Activators
150
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...
150
Antiepileptic Drugs: GABAergic Pathway Potentiators
351
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...
351


