【佳学基因检测】癫痫神经发育障碍基因治疗的贼新进展

精神病基因检测回扣机会

参加学术会议时成人神经科疾病与儿童神经科疾病基因检测序列的异同点《精神与神经疾病治疗效果与基因检测结果的相关性》《J Neurochem》在. 2021 Apr;157(2):229-262.发表了一篇题目为《癫痫神经发育障碍基因治疗的贼新进展》神经内科靶向药物治疗基因检测临床研究文章。该研究由Thomas J Turner, Clara Zourray, Stephanie Schorge, Gabriele Lignani等完成。促进了神经内科的正确治疗与鉴别诊断技术的发展，神经与精神科疾病的基因检测与正确治疗的结合进一步紧密。

神经疾病遗传阻断及正确治疗临床研究内容关键词：

癫痫,神经发育障碍,基因检测,基因治疗

神经科用药指导基因检测临床应用结果

神经发育障碍可能是由对大脑发育至关重要的神经元基因突变引起的。这些疾病具有严重的症状，包括智力障碍、社交和认知障碍，其中一部分与癫痫密切相关。基因突变是否存在，通用的认识是采用基因解码基因检测可以更为正确的检出。佳学基因重点关注那些经常以癫痫 (NDD + E) 为特征的神经发育障碍。佳学基因将与 NDD + E 相关的基因与不同的神经元功能松散地分组：转录调节、内在兴奋性和突触传递。所有这些基因在早期发育过程中在定义大脑结构和功能方面具有共同的关键作用，当它们的功能发生改变时，症状会出现在人类生命的贼初阶段。与癫痫的关系很复杂。在一些 NDD + E 中，癫痫是一种合并症，而在另一些中，癫痫发作似乎是病理的主要原因，这表明结构变化 (NDD) 或神经元通讯 (E) 都可能导致这些疾病。此外，对导致 NDD + E 的基因进行基因检测分组，佳学基因研究了当前不同疾病模型的用途和局限性，以及如何开发不同的基因治疗策略来治疗它们。佳学基因一度强调了基因替代可能不是治疗选择的地方，以及需要创新治疗工具（例如基于 CRISPR 的基因编辑）和新的递送途径的地方。总的来说，这组基因定义的疾病，支持对导致神经功能障碍的机制的了解不断增加，作为说明基因治疗转化潜力的极好集合，包括新出现的工具。癫痫;基因治疗;离子通道；神经发育;突触蛋白。

神经及精神疾病及其并发征、合并征国际数据库描述：

Neurodevelopmental disorders can be caused by mutations in neuronal genes fundamental to brain development. These disorders have severe symptoms ranging from intellectually disability, social and cognitive impairments, and a subset are strongly linked with epilepsy. In this review, we focus on those neurodevelopmental disorders that are frequently characterized by the presence of epilepsy (NDD + E). We loosely group the genes linked to NDD + E with different neuronal functions: transcriptional regulation, intrinsic excitability and synaptic transmission. All these genes have in common a pivotal role in defining the brain architecture and function during early development, and when their function is altered, symptoms can present in the first stages of human life. The relationship with epilepsy is complex. In some NDD + E, epilepsy is a comorbidity and in others seizures appear to be the main cause of the pathology, suggesting that either structural changes (NDD) or neuronal communication (E) can lead to these disorders. Furthermore, grouping the genes that cause NDD + E, we review the uses and limitations of current models of the different disorders, and how different gene therapy strategies are being developed to treat them. We highlight where gene replacement may not be a treatment option, and where innovative therapeutic tools, such as CRISPR-based gene editing, and new avenues of delivery are required. In general this group of genetically defined disorders, supported increasing knowledge of the mechanisms leading to neurological dysfunction serve as an excellent collection for illustrating the translational potential of gene therapy, including newly emerging tools.Keywords: disease models; epilepsy; gene therapy; ion channels; neurodevelopmental; synaptic proteins.