突触发生
诱导多能干细胞
神经科学
癫痫
生物
机制(生物学)
运动前神经元活动
生物神经网络
癫痫发生
神经网络
神经发育
大脑发育
突触修剪
心理学
神经可塑性
电生理学
皮质神经元
医学
作者
Filip Rosa,Stephan Theiss,Susanne Krepp,Heidi Loeffler,Dulini C. Mendis,Stefanie Klingenstein,Stefan Liebau,Sarah Weckhuysen,Michael Alber,Steven Petrou,Holger Lerche,Snezana Maljevic,Thomas V. Wuttke
标识
DOI:10.1016/j.nbd.2025.107120
摘要
KCNQ2 developmental and epileptic encephalopathy (KCNQ-DEE), is caused predominantly by dominant-negative loss-of-function variants in the KCNQ2 gene, leading to neonatal-onset epileptic seizures and profound neurodevelopmental impairment. Using patient induced pluripotent stem cells (iPSC)-derived neurons and complementary murine model, we found that dominant-negative KCNQ2 variants leading to diminished M-current cause depolarized resting membrane potential, reduced action potential generation and fragmented early network oscillations, all indicative of delayed neuronal development. These effects were most pronounced at immature developmental stages and replicated by pharmacological M-current inhibition, highlighting a critical role for Kv7.2 during early neuronal maturation. Notably, our data challenge the prevailing view that KCNQ2-DEE symptoms are solely driven by hyperexcitability. Instead, we reveal a biphasic pattern in which loss of M-current delays the acquisition of basic functional properties in developing neurons, with potential consequences for synaptogenesis and cortical circuit formation. These findings provide a plausible cellular mechanism for the early-onset developmental delay observed in KCNQ2-DEE patients, even when seizures are effectively controlled. They raise the possibility that seizure-suppressing therapies such as carbamazepine may disrupt the development of immature networks, but further work is needed to assess clinical relevance.
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