No Gain, Less Pain: GABRB3 Mutations in Epileptic Encephalopathy.
作者信息
Gallagher Martin J
机构信息
Vanderbilt University School of Medicine.
出版信息
Epilepsy Curr. 2022 Nov 1;23(1):44-46. doi: 10.1177/15357597221130199. eCollection 2023 Jan-Feb.
Abstract
摘要
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本文引用的文献
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International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.国际抗癫痫联盟儿童期起病的癫痫综合征分类和定义：ILAE 分类和定义工作组的立场文件。
Epilepsia. 2022 Jun;63(6):1398-1442. doi: 10.1111/epi.17241. Epub 2022 May 3.
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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.具有功能获得和功能丧失的 GABRB3 变异导致发育性和癫痫性脑病患者出现不同的临床表型。
Nat Commun. 2022 Apr 5;13(1):1822. doi: 10.1038/s41467-022-29280-x.
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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.GABRB3 变异的结构映射揭示了基因型-表型相关性。
Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7.
4
Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.由于不同的 GABRB3 突变导致的突触簇差异引起了不同的癫痫综合征。
Brain. 2019 Oct 1;142(10):3028-3044. doi: 10.1093/brain/awz250.
5
GABA Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.GABA 受体偶联连接和孔 GABRB3 突变与早发性癫痫性脑病有关。
Sci Rep. 2017 Nov 21;7(1):15903. doi: 10.1038/s41598-017-16010-3.
6
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.GABRB3基因的突变：从热性惊厥到癫痫性脑病
Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4.
7
Bidirectional Control of Generalized Epilepsy Networks via Rapid Real-Time Switching of Firing Mode.通过快速实时切换放电模式对广义癫痫网络进行双向控制。
Neuron. 2017 Jan 4;93(1):194-210. doi: 10.1016/j.neuron.2016.11.026. Epub 2016 Dec 15.
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Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.有害罕见变异揭示了遗传性癫痫患者和普通人群中GABAA受体功能丧失的风险。
PLoS One. 2016 Sep 13;11(9):e0162883. doi: 10.1371/journal.pone.0162883. eCollection 2016.
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GABA receptors in brain development, function, and injury.大脑发育、功能及损伤中的γ-氨基丁酸（GABA）受体
Metab Brain Dis. 2015 Apr;30(2):367-79. doi: 10.1007/s11011-014-9560-1. Epub 2014 May 13.
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Mutations in GABAA receptor subunits associated with genetic epilepsies.与遗传性癫痫相关的 GABAA 受体亚基突变。
J Physiol. 2010 Jun 1;588(Pt 11):1861-9. doi: 10.1113/jphysiol.2010.186999. Epub 2010 Mar 22.
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