【佳學(xué)基因檢測】癲癇神經(jīng)發(fā)育障礙基因治療的賊新進展

精神病基因檢測回扣機會

參加學(xué)術(shù)會議時成人神經(jīng)科疾病與兒童神經(jīng)科疾病基因檢測序列的異同點《精神與神經(jīng)疾病治療效果與基因檢測結(jié)果的相關(guān)性》《J Neurochem》在. 2021 Apr;157(2):229-262.發(fā)表了一篇題目為《癲癇神經(jīng)發(fā)育障礙基因治療的賊新進展》神經(jīng)內(nèi)科靶向藥物治療基因檢測臨床研究文章。該研究由Thomas J Turner, Clara Zourray, Stephanie Schorge, Gabriele Lignani等完成。促進了神經(jīng)內(nèi)科的正確治療與鑒別診斷技術(shù)的發(fā)展，神經(jīng)與精神科疾病的基因檢測與正確治療的結(jié)合進一步緊密。

神經(jīng)疾病遺傳阻斷及正確治療臨床研究內(nèi)容關(guān)鍵詞：

癲癇,神經(jīng)發(fā)育障礙,基因檢測,基因治療

神經(jīng)科用藥指導(dǎo)基因檢測臨床應(yīng)用結(jié)果

神經(jīng)發(fā)育障礙可能是由對大腦發(fā)育至關(guān)重要的神經(jīng)元基因突變引起的。這些疾病具有嚴(yán)重的癥狀，包括智力障礙、社交和認(rèn)知障礙，其中一部分與癲癇密切相關(guān)。基因突變是否存在，通用的認(rèn)識是采用基因解碼基因檢測可以更為正確的檢出。佳學(xué)基因重點關(guān)注那些經(jīng)常以癲癇 (NDD + E) 為特征的神經(jīng)發(fā)育障礙。佳學(xué)基因?qū)⑴c NDD + E 相關(guān)的基因與不同的神經(jīng)元功能松散地分組：轉(zhuǎn)錄調(diào)節(jié)、內(nèi)在興奮性和突觸傳遞。所有這些基因在早期發(fā)育過程中在定義大腦結(jié)構(gòu)和功能方面具有共同的關(guān)鍵作用，當(dāng)它們的功能發(fā)生改變時，癥狀會出現(xiàn)在人類生命的賊初階段。與癲癇的關(guān)系很復(fù)雜。在一些 NDD + E 中，癲癇是一種合并癥，而在另一些中，癲癇發(fā)作似乎是病理的主要原因，這表明結(jié)構(gòu)變化 (NDD) 或神經(jīng)元通訊 (E) 都可能導(dǎo)致這些疾病。此外，對導(dǎo)致 NDD + E 的基因進行基因檢測分組，佳學(xué)基因研究了當(dāng)前不同疾病模型的用途和局限性，以及如何開發(fā)不同的基因治療策略來治療它們。佳學(xué)基因一度強調(diào)了基因替代可能不是治療選擇的地方，以及需要創(chuàng)新治療工具（例如基于 CRISPR 的基因編輯）和新的遞送途徑的地方?？偟膩碚f，這組基因定義的疾病，支持對導(dǎo)致神經(jīng)功能障礙的機制的了解不斷增加，作為說明基因治療轉(zhuǎn)化潛力的極好集合，包括新出現(xiàn)的工具。癲癇;基因治療;離子通道；神經(jīng)發(fā)育;突觸蛋白。

神經(jīng)及精神疾病及其并發(fā)征、合并征國際數(shù)據(jù)庫描述：

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.