Molecular Mechanisms of Epileptic Encephalopathy Caused by KCNMA1 Loss-of-Function Mutations

• Main Authors: Yu Yao (Author), Dongxiao Qu (Author), Xiaoping Jing (Author), Yuxiang Jia (Author), Qi Zhong (Author), Limin Zhuo (Author), Xingxing Chen (Author), Guoyi Li (Author), Lele Tang (Author), Yudan Zhu (Author), Xuemei Zhang (Author), Yonghua Ji (Author), Zhiping Li (Author), Jie Tao (Author)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

The gene kcnma1 encodes the α-subunit of high-conductance calcium- and voltage-dependent K+ (BK) potassium channel. With the development of generation gene sequencing technology, many KCNMA1 mutants have been identified and are more closely related to generalized epilepsy and paroxysmal dyskinesia....