Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia

• Main Authors: Haiming Yuan (Author), Qingming Wang (Author), Yufeng Li (Author), Shuangxi Cheng (Author), Jianxin Liu (Author), Yanhui Liu (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The PRIMPOL variant has only been identified in Chinese patients with hi...