Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

• Autores principales: Juan Xiong (Autor), Zhonghua Liu (Autor), Shimeng Chen (Autor), Miriam Kessi (Autor), Baiyu Chen (Autor), Haolin Duan (Autor), Xiaolu Deng (Autor), Lifen Yang (Autor), Jing Peng (Autor), Fei Yin (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2022-01-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Objective:Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. "Complete or partial loss of function (LoF)," "dominant-negative (DN) effect" are applied to describe KCNB1 variant's...