与CHD2相关的与眼肌:报告了三个病例
Hannah Padilla1, Filippo Pinto E Vairo2,3, Elaine C Wirrell4
1Mayo Clinic School of Medicine, Rochester, Minnesota, USA.
Epileptic disorders : international epilepsy journal with videotape
|November 6, 2024
概括
这项研究确定了与CHD2基因变异相关的三例与眼肌 (EEM) 的病例. 这些患者还出现了自闭症谱系障碍,智力障碍和多动症,突出了对EME的遗传测试.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 的研究研究.
背景情况:
- 与眼皮肌 (EEM) 是一种罕见的综合征.
- 人们还没有完全理解EEM的遗传基础.
- CHD2基因变异已与各种神经系统疾病有关.
研究的目的:
- 报告三例与CHD2基因中病原性变异相关的EME病例.
- 描述这些患者的临床表现,治疗和结果.
- 调查CHD2变种在EEM病原发生中的潜在作用.
主要方法:
- 对134名EME患者数据库的回顾性审查.
- 通过基因检测识别患有CHD2病原体变异的患者.
- 详细分析医疗记录的临床特征和治疗反应.
主要成果:
- 三名EME患者被发现具有新的CHD2致病变体.
- 这三名患者均表现出并发性自闭症谱系障碍 (ASD),智力障碍 (ID) 和注意力缺陷多动性障碍 (ADHD).
- 尽管服用了多种抗发作药物,眼肌仍然存在;在两名患者中控制了泛性强力-克隆性发作.
结论:
- 应考虑对EEM患者进行CHD2变异的基因检测,特别是那些患有ASD,ID和ADHD并发症的患者.
- CHD2变异可能在EEM的发生中发挥重要作用.
- 对CHD2和EEM之间的关系进行进一步研究是有必要的.
相关概念视频
01:13Seizures: Classification
303
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:
303
01:24Arteries of the Lower Limbs
178
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...
178