The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABAAR function-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABAAR function

Published:2024-08 Issue: Volume:553 Page:172-184
ISSN:0306-4522
Container-title:Neuroscience
language:en
Short-container-title:Neuroscience

Author:

Li Ping-Ping,Zhou Yue-Yuan,Gao Li,Lv Jia-Nan,Xu Shi-Shi,Zhao Yan-Wen,Xu Di,Huang Ruoke,Zhang Xiong,Li Peijun,Fu Xiaoqin,He Zhiyong

Funder

Zhejiang Province Natural Science Foundation

National Natural Science Foundation of China

Publisher

Elsevier BV

Reference53 articles.

1. Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies;Absalom;Brain. Commun.,2020

2. Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies;Absalom;Nat. Commun.,2022

3. The exome clinic and the role of medical genetics expertise in the interpretation of exome sequencing results;Baldridge;Genet. Med.,2017

4. Forced subunit assembly in alpha1beta2gamma2 GABAA receptors. insight into the absolute arrangement;Baumann;J. Biol. Chem.,2002

5. GABA(A) receptors in GtoPdb vol 2021.3;Belelli;IUPHAR BPS Guide Pharm CITE,2021

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP