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Keeping up with KCNQ2: A New Model of Epileptic Encephalopathy.紧跟KCNQ2:癫痫性脑病的新模式。
Epilepsy Curr. 2022 Mar 11;22(2):141-143. doi: 10.1177/15357597221082485. eCollection 2022 Mar-Apr.
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A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.KCNQ2 相关性癫痫性脑病的敲入小鼠模型表现出自发性全身性发作和认知障碍。
Epilepsia. 2020 May;61(5):868-878. doi: 10.1111/epi.16494. Epub 2020 Apr 2.
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A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.一名患有难治性早发性癫痫性脑病儿童的新型KCNQ2从头突变。
Turk J Pediatr. 2019;61(2):279-281. doi: 10.24953/turkjped.2019.02.020.
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Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.由功能获得性变异KCNQ2 R198Q引起的无前驱新生儿惊厥的婴儿痉挛症和脑病。
Epilepsia. 2017 Jan;58(1):e10-e15. doi: 10.1111/epi.13601. Epub 2016 Nov 9.
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Reduced axonal surface expression and phosphoinositide sensitivity in K7 channels disrupts their function to inhibit neuronal excitability in Kcnq2 epileptic encephalopathy.K7 通道轴突表面表达减少和磷酯酰肌醇敏感性降低会破坏其功能,从而导致 Kcnq2 癫痫性脑病中神经元兴奋性抑制作用丧失。
Neurobiol Dis. 2018 Oct;118:76-93. doi: 10.1016/j.nbd.2018.07.004. Epub 2018 Jul 6.
6
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.一个三代家系中携带KCNQ2基因可能致病变异,该家系成员表现为智力残疾伴儿童期发作性癫痫,存在可变表达。
Am J Med Genet A. 2017 Aug;173(8):2226-2230. doi: 10.1002/ajmg.a.38281. Epub 2017 Jun 11.
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KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report.KCNQ2相关性新生儿癫痫性脑病合并室性心动过速:一例报告
Front Neurol. 2020 Apr 17;11:263. doi: 10.3389/fneur.2020.00263. eCollection 2020.
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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.KCNQ2 脑病:一种新生儿癫痫性脑病的新表型。
Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644.
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Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?严重新生儿癫痫性脑病与 KCNQ2 突变:神经病理学基础?
Front Pediatr. 2014 Dec 19;2:136. doi: 10.3389/fped.2014.00136. eCollection 2014.
10
Clinical characteristics of KCNQ2 encephalopathy.KCNQ2 脑病的临床特征。
Brain Dev. 2021 Feb;43(2):244-250. doi: 10.1016/j.braindev.2020.08.015. Epub 2020 Sep 8.

引用本文的文献

1
The Voltage-Sensor S4 Rises to the Occasion in KCNQ2 Channel Activation.在KCNQ2通道激活过程中,电压传感器S4发挥了作用。
Epilepsy Curr. 2022 Nov 1;23(1):47-49. doi: 10.1177/15357597221132972. eCollection 2023 Jan-Feb.

本文引用的文献

1
Spontaneous seizure and memory loss in mice expressing an epileptic encephalopathy variant in the calmodulin-binding domain of K7.2.表达在 K7.2 的钙调蛋白结合域中具有癫痫性脑病变异体的小鼠中的自发性癫痫发作和记忆丧失。
Proc Natl Acad Sci U S A. 2021 Dec 21;118(51). doi: 10.1073/pnas.2021265118.
2
Developmental and epileptic encephalopathies: what we do and do not know.发育性和癫痫性脑病:我们知道什么和不知道什么。
Brain. 2021 Feb 12;144(1):32-43. doi: 10.1093/brain/awaa371.
3
The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding.Kv7.2在神经发育中的作用:我们理解中的见解与差距
Front Physiol. 2020 Oct 28;11:570588. doi: 10.3389/fphys.2020.570588. eCollection 2020.
4
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.鉴定突变热点揭示 KCNQ2 癫痫性脑病的发病机制。
Sci Rep. 2020 Mar 16;10(1):4756. doi: 10.1038/s41598-020-61697-6.
5
Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse.人源祖细胞和成熟星形胶质细胞的纯化与鉴定揭示了与小鼠的转录和功能差异。
Neuron. 2016 Jan 6;89(1):37-53. doi: 10.1016/j.neuron.2015.11.013. Epub 2015 Dec 10.
6
The genetic landscape of the epileptic encephalopathies of infancy and childhood.婴儿和儿童癫痫性脑病的遗传特征。
Lancet Neurol. 2016 Mar;15(3):304-16. doi: 10.1016/S1474-4422(15)00250-1. Epub 2015 Nov 17.
7
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.KCNQ2 突变的显性负效应与癫痫性脑病有关。
Ann Neurol. 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18.
8
Neural KCNQ (Kv7) channels.神经 KCNQ(Kv7)通道。
Br J Pharmacol. 2009 Apr;156(8):1185-95. doi: 10.1111/j.1476-5381.2009.00111.x. Epub 2009 Mar 9.
9
Contribution of KCNQ2 and KCNQ3 to the medium and slow afterhyperpolarization currents.KCNQ2和KCNQ3对中等和缓慢后超极化电流的作用。
Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19974-9. doi: 10.1073/pnas.0810535105. Epub 2008 Dec 5.
10
A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon.一种常见的基于锚蛋白G的机制将钾离子通道亚型KCNQ和电压门控性钠离子通道保留在轴突的电活性区域。
J Neurosci. 2006 Mar 8;26(10):2599-613. doi: 10.1523/JNEUROSCI.4314-05.2006.

Keeping up with KCNQ2: A New Model of Epileptic Encephalopathy.

作者信息

Bottom-Tanzer Samantha, Dulla Chris

机构信息

Tufts University School of Medicine, Boston, MA, USA.

出版信息

Epilepsy Curr. 2022 Mar 11;22(2):141-143. doi: 10.1177/15357597221082485. eCollection 2022 Mar-Apr.

DOI:10.1177/15357597221082485
PMID:35444503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8988726/
Abstract
摘要