Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report

• Main Authors: Martina Siracusano (Author), Claudia Marcovecchio (Author), Assia Riccioni (Author), Caterina Dante (Author), Luigi Mazzone (Author)
• 格式: 圖書
• 出版: MDPI AG, 2022-04-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

The KCNQ2 gene, encoding for the K_v7.2 subunits of the K_v7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutati...