A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel-Reference-Cited by-同舟云学术

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A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel

Published:2022-05 Issue: Volume:530 Page:74-80
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Xiong Juan^ORCID,Chen Shimeng,Chen Baiyu,Zhang Wen,Chen Chen,Deng Xiaolu,He Fang,Zhang Ciliu,Yang Lifen,Wang Ying,Peng Jing,Yin Fei^ORCID

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference26 articles.

1. KCNQ2 and KCNQ3 potassium channel subunits: Molecular correlates of the M-channel;Wang;Science (80-.),1998

2. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy;Goto;Epilepsia.,2019

3. De novo KCNQ2 mutations in patients with benign neonatal seizures;Claes;Neurology,2004

4. A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family;Tang;J. Neurol. Sci.,2004

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by <i>KCNQ2</i> Gene Defects;Neonatology;2023-12-01

2. Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy;Frontiers in Molecular Neuroscience;2023-07-11

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