鉴定新的癫痫遗传学和发展先进的诊断方法

Brain disorders (Amsterdam, Netherlands) Pub Date : 2025-03-01 Epub Date: 2025-02-20 DOI:10.1016/j.dscb.2025.100202
Ramakrishnan Veerabathiran, B.K. Iyshwarya
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引用次数: 0

摘要

癫痫是一种影响全世界5000多万人的神经系统疾病。癫痫病是一种以频繁发作为特征的神经系统疾病。癫痫发作发生时,大脑活动突然异常尖峰,改变运动、知觉或行为。根据目前正在进行的研究,几种基因可能与癫痫有关。我们试图确定与癫痫猝死和癫痫相关的皮质发育畸形相关的基因。对每个基因过程进行了详细的分析,以更好地了解其可能的机制及其与癫痫的关系。通过分析家庭研究和改进计算方法,我们更好地了解了基因是如何影响癫痫的。虽然遗传因素可能在癫痫的发展中起作用,但癫痫的起源和后果仍然未知。研究与癫痫相关的基因对于更好地理解遗传学和癫痫之间的联系是必要的。由于遗传研究的进展,已经确定了几种癫痫基因。这些见解使基因诊断能够纳入临床实践,并有助于癫痫的诊断和治疗。
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Identification of novel epilepsy genetics and development of advanced diagnostic approaches
Epilepsy is a neurological illness that affects over 50 million individuals worldwide. An epileptic disease is a neurological condition characterized by frequent seizures. Seizures occur when brain activity spikes abruptly and abnormally, altering movement, perception, or behavior. Several genes may be associated with epilepsy, according to research currently being conducted. We sought to identify the genes associated with sudden, unexpected mortality in epilepsy and malformations of the cortical development related to epilepsy. Detailed analyses of each gene process have been conducted better to understand its probable mechanism and relationship to epilepsy. Since analyzing family studies and refining computational methods, we have better understood how genetics may influence epilepsy. Although genetic factors may play a role in epilepsy development, the origins and consequences of epilepsy are still unknown. The study of genes associated with epilepsy is necessary to understand better how genetics and epilepsy are connected. Several epilepsy genes have been identified due to advances in genetic research. These insights enable genetic diagnostics to be incorporated into clinical practice and assist in diagnosing and treating epilepsy.
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来源期刊
Brain disorders (Amsterdam, Netherlands)
Brain disorders (Amsterdam, Netherlands) Neurology, Clinical Neurology
CiteScore
1.90
自引率
0.00%
发文量
0
审稿时长
51 days
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