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

• Príomhchruthaitheoirí: Ling Tong (Údar), Xinxin Wang (Údar), Huiqin Wang (Údar), Rong Yang (Údar), Xiaoyan Li (Údar), Xiaoguang Yin (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2024-09-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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...