Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report

• Autores principales: Yang Tian (Autor), Zhen Shi (Autor), Chi Hou (Autor), Wenjuan Li (Autor), Xiuying Wang (Autor), Haixia Zhu (Autor), Xiaojing Li (Autor), Wen-Xiong Chen (Autor)
• Formato: Libro
• Publicado: BMC, 2021-12-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy that can be caused by brain malformations or genetic mutations. Recently, genome-wide association studies have led to the identification of novel mutations associated with LGS. The TANC2 gene, encodes a synaptic s...