Ion channels in neurodevelopment:lessons from the Integrin-KCNB1 channel complex  

作　　者：Alessandro Bortolami Federico Sesti 

机构地区：[1]Department of Neuroscience and Cell Biology,Robert Wood Johnson Medical School,Rutgers University,West Piscataway,NJ,USA

出　　处：《Neural Regeneration Research》2023年第11期2365-2369,共5页中国神经再生研究（英文版）

基　　金：NJ Governor’s Council for Medical Research and Treatment of Autism predoctoral fellowship (CAUT23AFP015) to AB;National Science Foundation grant (2030348) to FS。

摘　　要：Ion channels modulate cellular excitability by regulating ionic fluxes across biological membranes.Pathogenic mutations in ion channel genes give rise to epileptic disorders that are among the most frequent neurological diseases affecting millions of individuals worldwide.Epilepsies are trigge red by an imbalance between excitatory and inhibitory conductances.However,pathogenic mutations in the same allele can give rise to loss-of-function and/or gain-of-function va riants,all able to trigger epilepsy.Furthermore,certain alleles are associated with brain malformations even in the absence of a clear electrical phenotype.This body of evidence argues that the underlying epileptogenic mechanisms of ion channels are more diverse than originally thought.Studies focusing on ion channels in prenatal cortical development have shed light on this apparent paradox.The picture that emerges is that ion channels play crucial roles in landmark neurodevelopmental processes,including neuronal migration,neurite outgrowth,and synapse formation.Thus,pathogenic channel mutants can not only cause epileptic disorders by alte ring excitability,but further,by inducing morphological and synaptic abnormalities that are initiated during neocortex formation and may persist into the adult brain.

关 键 词：developmental and epileptic encephalopathies epilepsy K+channel KCNB1 Kv2.1 NEURODEVELOPMENT potassium channel 

分 类 号：R742.1[医药卫生—神经病学与精神病学]