Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

Objective:Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder. “Complete or partial loss of function (LoF),” “dominant-negative (DN) effect” are applied to describe KCNB1 variant's molecular phenotype...

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Bibliographic Details
Main Authors: Juan Xiong, Zhonghua Liu, Shimeng Chen, Miriam Kessi, Baiyu Chen, Haolin Duan, Xiaolu Deng, Lifen Yang, Jing Peng, Fei Yin
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Pediatrics
Subjects:
KCNB1
neurodevelopmental disorder
loss of function
dominant-negative effect
haploinsufficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.755344/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.755344/full

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