皮里多克辛依赖性与神经发育不良结果:案例报告
Avantika Chauhan1, Shalini Tripathi2, Mala Kumar3
1Senior Resident, Department of Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.
Pediatric neurology
|September 30, 2023
概括
皮里多克素依赖性发作是一种罕见的新生儿疾病,通常会抵抗标准治疗,但对皮里多克素有反应. 基因分析发现ALDH7A1突变发生在一个患有难以治疗的和代谢问题的病例中.
科学领域:
- 医学遗传学 医学遗传学
- 新生儿科学 新生儿科学
- 生物化学 生物化学
背景情况:
- 甲素依赖性 (PDs) 是新生儿罕见的,严重的综合征.
- 这些发作通常不耐常规抗药物治疗.
- 由于不同的临床表现和缺乏特定生物标志物,诊断可能具有挑战性.
研究的目的:
- 报告一个新生儿发作病例,最初对AEDs有反应,但后来难以治疗.
- 突出诊断的挑战和基因测试在PDs的实用性.
- 将临床发现与潜在的遗传原因联系起来.
主要方法:
- 一个新生儿患有耐火性发作的临床病例呈现.
- 对抗药物和素的治疗反应的审查.
- 临床外体序列测序用于基因诊断的应用.
主要成果:
- 这位患者出现了难以治愈的新生儿和代谢障碍.
- 最初使用标准抗药物的治疗被证明是无效的.
- 临床外体序列测定确定了ALDH7A1基因中可能存在的致病突变.
结论:
- 在新生儿患有难以治愈的时,应考虑依赖甲素的发作,即使初始响应了AED.
- 基因分析,例如外基因组测序,对于诊断PDs至关重要.
- 鉴定ALDH7A1突变证实了这种可治疗的综合征的遗传基础.
相关概念视频
Seizures: Classification
396
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:
396
Antiepileptic Drugs: GABAergic Pathway Potentiators
446
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...
446
Antiepileptic Drugs: Glutamate Antagonists
407
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...
407
Inborn Errors of Metabolism
179
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
179
Antiepileptic Drugs: Potassium Channel Activators
203
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...
203
Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
332
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...
332


