Role for ion conducting proteins in cortical malformation diseases

K99管理员补充项目摘要 离子通道可以破坏皮层形成的想法是一个新的研究领域，特别是 当探索在细胞水平上激活的机制时。自从分裂祖细胞以来 发育中的大脑皮层中的新生神经元依靠离子来控制细胞 过程中，我将检验新的假设，即破坏特定离子通量的活性是至关重要的 大脑皮层集合。大脑中存在发育通道病的证据 由于皮质畸形的异质性，以及 他们往往在进化上处于极端的负面压力之下。鉴于我所描述的 以及对大脑疾病进行分类，以提高我们对疾病机制和 皮质发育畸形(MCD)相关疾病的治疗 这项工作对人类的意义 研究将立即得到改善 健康是立竿见影的，因为这样产生的结果 诊断出的疾病的基因测试。我会完成这个的 结合经验证的和创新的战略进行研究，包括： 目标1)完成(K99目标1，1年级) 目的2)建立一种新的发育性经络病小鼠模型； 目的：建立一种新的人脑器官发育的生理学检测方法。

K99 Admin Supplement Project Summary The idea that ion channels can disrupt cortex formation is a new area of study, particularly when exploring the mechanisms activated at a cellular level. Since dividing progenitor cells and newborn neurons in the developing cerebral cortex rely on ions for controlling cellular processes, I will test the new hypothesis that disrupted activity of specific ion fluxes is critical to cortex assembly. Proof of the existence of developmental channelopathies in the brain has remained elusive due to the heterogenous nature of cortical malformations and the fact that they are often are under extreme negative pressure evolutionarily. Given that I am describing and categorizing brain disorders that improve our understanding of disease mechanisms and the treatment of conditions related to malformation of cortical development (MCD), the significance of this work to human research will immediately improve health is immediate as the results generated by this genetic testing for diagnosed disorders. I will complete this research with a combination of both proven and innovative strategies, including: Aim 1) Completed (K99 Aim 1, year 1) Aim 2) Characterizing a novel mouse model for a developmental channelopathy; Aim 3) Development of a novel physiological assay in developing human cerebral organoids.