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The molecular and phenotypic spectrum of CLCN4-related epilepsy.CLCN4 相关性癫痫的分子和表型谱。
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Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.与癫痫相关的突变及其分子亚区域影响
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Expanding the phenotypic spectrum of : From syndromic neurodevelopmental disorder to rolandic epilepsy.扩展 的表型谱：从综合征性神经发育障碍到罗兰多癫痫。 （注：原文中“Expanding the phenotypic spectrum of”后面似乎缺少具体内容）
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本文引用的文献

1
Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism.突变导致儿童肌阵挛癫痫和热性惊厥：分子亚区域效应及机制
Front Genet. 2021 Mar 9;12:632466. doi: 10.3389/fgene.2021.632466. eCollection 2021.
2
Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect.与皮质发育畸形及伴有热性惊厥附加症/热性惊厥的局灶性癫痫相关的变异：分子亚区域效应的作用
Front Neurosci. 2020 Aug 11;14:821. doi: 10.3389/fnins.2020.00821. eCollection 2020.
3
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.MN1 C 端截短综合征是一种具有部分脑-面联合异常的新型神经发育和颅面疾病。
Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.
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Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification.预测基因变异的计算机工具优化：针对具有分子亚区域分层的基因进行个体化分析。
Brief Bioinform. 2020 Sep 25;21(5):1776-1786. doi: 10.1093/bib/bbz115.
5
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.ATP6V1A 基因突变导致伴癫痫的发育性脑病。
Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.
6
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.SCN1A突变数据库：更新信息并分析基因型、功能改变和表型之间的关系。
Hum Mutat. 2015 Jun;36(6):573-80. doi: 10.1002/humu.22782. Epub 2015 Apr 13.
7
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.由小的 FMR2 基因缺失引起的家族性智力障碍和自闭症行为。
Am J Med Genet A. 2011 Aug;155A(8):2003-7. doi: 10.1002/ajmg.a.34122. Epub 2011 Jul 7.
8
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.新型KIAA1202基因的破坏与X连锁智力迟钝有关。
Hum Genet. 2006 Jan;118(5):578-90. doi: 10.1007/s00439-005-0072-2. Epub 2005 Oct 26.
9
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.VLGR1基因的突变表明G蛋白信号传导参与II型Usher综合征的发病机制。
Am J Hum Genet. 2004 Feb;74(2):357-66. doi: 10.1086/381685. Epub 2004 Jan 20.
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Mutation detection in the repeated part of the PKD1 gene.多囊肾病1基因重复部分的突变检测
Am J Hum Genet. 1997 Nov;61(5):1044-52. doi: 10.1086/301600.

Editorial: Sub-molecular mechanism of genetic epilepsy.

作者信息

Liao Wei-Ping, Chen Qian, Jiang Yu-Wu, Luo Sheng, Liu Xiao-Rong

机构信息

Department of Neurology, Institute of Neuroscience, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province, Ministry of Education of China, Guangzhou, China.

出版信息

Front Mol Neurosci. 2022 Jul 26;15:958747. doi: 10.3389/fnmol.2022.958747. eCollection 2022.

DOI:10.3389/fnmol.2022.958747
PMID:35959103
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9360914/
Abstract
摘要