Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy

• Main Authors: Ling Tong (Author), Xinxin Wang (Author), Huiqin Wang (Author), Rong Yang (Author), Xiaoyan Li (Author), Xiaoguang Yin (Author)
• Format: Book
• Published: BMC, 2024-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Defects in PPP1R12A can lead to genitourinary and/or brain malformation syndrome (GUBS). GUBS is primarily characterized by neurological or genitourinary system abnormalities, but a few reported cases are associated with neonatal seizures. Here, we report a case of a female newbo...