Related Experiment Video
Updated: Jun 6, 2025

Study of the Functions and Activities of Neuronal K-Cl Co-Transporter KCC2 Using Western Blotting
Published on: December 9, 2022
The KCNB2 gene and its role in neurodevelopmental disorders: Implications for genetics and therapeutic advances
Zakaria Ahmed Mohamed1, Jinghua Li2, Jianping Wen3
1Department of Genetics, College of Basic Medical Sciences, Jilin University, Changchun 130021, China; Department of Developmental and Behavioral Pediatrics, The First Hospital of Jilin University, Jilin University, Changchun, China.
Abstract:
Neurodevelopmental disorders (NDDs) are increasingly linked to genetic mutations that disrupt key neuronal processes. The KCNB2 gene encodes a crucial component of voltage-gated potassium channels, essential for regulating neuronal excitability and synaptic transmission. Mutations in KCNB2 typically alter potassium channel inactivation, leading to various NDDs, including autism spectrum disorders (ASD), intellectual disabilities (ID), and epilepsy. This narrative review synthesizes findings from genetic, molecular, and clinical studies on the KCNB2 gene and its role in NDDs. Relevant literature was identified through database searches in PubMed, Embase, PsycINFO, Scopus, and Web of Science, focusing on studies that examine KCNB2's molecular mechanisms, pathogenic mutations, and clinical implications in NDDs. In addition to its role in excitability, KCNB2's impact on cognitive processes, such as memory and attention, is considered, highlighting the need for further research. Potential interventions, including pharmacological modulation and gene therapy, are also discussed. Future research should focus on characterizing KCNB2 variants, expanding genetic screening, and advancing targeted therapies to improve outcomes for individuals affected by KCNB2-related disorders.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
00:06In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Related Concept Videos
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Enzyme-linked Receptors
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
Karyotyping