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Updated: Jun 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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一个新的功能丧失KCNB1基因变异在一个双胞胎与全球发育迟缓和发作

Rían W Manville1, Claire L Illeck1, Cesar Santos2

  • 1Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, Irvine, CA, United States.

Frontiers in cellular neuroscience
|October 29, 2024
PubMed
概括

一种新的KCNB1基因变异导致儿童严重的神经发育延迟和. 这种kv2.1通道突变导致显著的功能丧失,影响大脑的电活动和发育.

关键词:
迪伊·迪伊是什么意思KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB KCNB在KV2.1中,KV2.1就是KV2.神经发育延迟是一种神经发育延迟.发作 发作 这些

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