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

• المؤلفون الرئيسيون: Ling Tong (مؤلف), Xinxin Wang (مؤلف), Huiqin Wang (مؤلف), Rong Yang (مؤلف), Xiaoyan Li (مؤلف), Xiaoguang Yin (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2024-09-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...