在KBG综合征中的:报告了额外的病例
Robyn Whitney1, Madeline Komar1, Sangeetha Yoganathan2
1Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.
Pediatric neurology
|December 29, 2023
概括
是KBG综合征中常见的并发症,通常在1岁之前出现. 这项研究强调了一般性发作是KBG综合征相关中最常见的.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 肯布基综合征是一种罕见的遗传性疾病,具有多种症状,包括身高矮,独特的面部特征和认知障碍.
- 是KBG综合征中显著的并发症,但其全谱仍然未得到充分承认.
研究的目的:
- 描述KBG综合征中的表型.
- 将新发现的病例与现有文献数据进行比较.
主要方法:
- 确定了五名KBG综合征和的新患者.
- 从文献中审查和分析了134个先前报告的病例.
- 与抗发作药物的抗发作类型,发病和反应进行比较.
主要成果:
- 确定了五名患有KBG综合征相关的新患者,中位数在18个月开始发作.
- 一般性发作是最常见的 (60%),在40%的新病例中是耐火的.
- 对134个病例的文献审查显示,中位数的发作在4年开始,44%的病例有普遍性发作.
结论:
- 在KBG综合征中的经常涉及一般性发作,并且可以在1岁之前表现出来.
- 在KBG综合征患者中,可识别的综合征并不常见.
- 对于患有KBG综合征的婴儿来说,早期考虑非常重要.
更多相关视频
11:54Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy
Published on: January 29, 2018
25.5K
10:22Interictal High Frequency Oscillations Detected with Simultaneous Magnetoencephalography and Electroencephalography as Biomarker of Pediatric Epilepsy
Published on: December 6, 2016
20.4K
相关概念视频
Seizures: Classification
368
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:
368
Arteries of the Lower Limbs
190
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...
190
Antiepileptic Drugs: GABAergic Pathway Potentiators
411
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...
411
