CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

• Main Authors: Linxia Zhang (Author), Yongxin Wen (Author), Qingping Zhang (Author), Yan Chen (Author), Jiaping Wang (Author), Kaili Shi (Author), Lijun Du (Author), Xinhua Bao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A mutations is wide. The aim of this study is to demonst...