George Alfred L, Kiskinis Evangelos
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Epilepsy Curr. 2024 Oct 16;24(5):345-349. doi: 10.1177/15357597241280484. eCollection 2024 Sep-Oct.
Pathogenic variants in genes encoding ion channels are frequently discovered in monogenic disorders associated with epilepsy and neurodevelopmental disorders. This review covers advances in the use of automated patch clamp recording for determining the functional consequences of epilepsy-associated ion channel variants and the use of induced pluripotent stem cell (iPSC) derived neurons for in-depth investigations of the physiological consequences of such variants. The combination of these advanced technologies was a focus of the recently completed NINDS-funded Channelopathy-associated Epilepsy Research Center without Walls.
编码离子通道的基因中的致病变异经常在与癫痫和神经发育障碍相关的单基因疾病中被发现。本综述涵盖了使用自动膜片钳记录来确定癫痫相关离子通道变异的功能后果,以及使用诱导多能干细胞(iPSC)衍生的神经元来深入研究此类变异的生理后果方面的进展。这些先进技术的结合是最近完成的由美国国立神经疾病和中风研究所资助的无墙通道病相关癫痫研究中心的一个重点。