Article
Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 8 Dec 2021
Que Zhefu, Olivero-Acosta Maria I, Zhang Jingliang, Eaton Muriel, Tukker Anke M, Chen Xiaoling, Wu Jiaxiang, Xie Junkai, Xiao Tiange, Wettschurack Kyle, Yunis Layan, Shafer J Marshall, Schaber James A, Rochet Jean-Christophe, Bowman Aaron B, Yuan Chongli, Huang Zhuo, Hu Chang-Deng, Trader Darci J, Skarnes William C, Yang Yang
Abstract excerpt
With the wide adoption of genomic sequencing in children having seizures, an increasing number of SCN2A genetic variants have been revealed as genetic causes of epilepsy. Voltage-gated sodium channel Nav1.2, encoded by gene SCN2A, is predominantly expressed in the pyramidal excitatory neurons and supports action potential (AP) firing. One recurrent SCN2A genetic variant is L1342P, which was identified in multiple...
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