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Pump-Opathies: Mutations in Na-K-ATPase Genes Produce Severe Developmental Epileptic Encephalopathies.

作者信息

Stafstrom Carl E

机构信息

Division of Pediatric Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

出版信息

Epilepsy Curr. 2021 Nov 25;22(1):72-74. doi: 10.1177/15357597211057356. eCollection 2022 Jan-Feb.

DOI:10.1177/15357597211057356
PMID:35233207
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8832351/
Abstract
摘要

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.ATP1A2 和 ATP1A3 相关的早发性重度癫痫性脑病伴巨脑回畸形。
Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052.
2
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.与ATP1A3相关的疾病：不断扩展的临床谱。
Front Neurol. 2021 Apr 1;12:637890. doi: 10.3389/fneur.2021.637890. eCollection 2021.
3
Na-K-ATPase functions in the developing hippocampus: regional differences in CA1 and CA3 neuronal excitability and role in epileptiform network bursting.钠钾 ATP 酶在发育中的海马中的功能：CA1 和 CA3 神经元兴奋性的区域差异及在癫痫样网络爆发中的作用。
J Neurophysiol. 2021 Jan 1;125(1):1-11. doi: 10.1152/jn.00453.2020. Epub 2020 Nov 18.
4
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.ATP1A3 变异与儿童缓慢进行性小脑共济失调，无阵发性或发作性症状。
Dev Med Child Neurol. 2021 Jan;63(1):111-115. doi: 10.1111/dmcn.14666. Epub 2020 Sep 7.
5
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.ATP1A3基因的新突变与灾难性的早期癫痫、发作性长时间呼吸暂停和出生后小头畸形有关。
Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5.
6
Na+, K+-ATPase: functions in the nervous system and involvement in neurologic disease.钠钾ATP酶：在神经系统中的功能及与神经疾病的关联
Neurology. 2011 Jan 18;76(3):287-93. doi: 10.1212/WNL.0b013e3182074c2f.
7
Nobel Lecture. The identification of the sodium pump.诺贝尔演讲。钠泵的鉴定。
Biosci Rep. 1998 Aug;18(4):155-69. doi: 10.1023/a:1020196612909.
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Role of Na-K pump potassium regulation and IPSPs in seizures and spreading depression in immature rabbit hippocampal slices.钠钾泵钾调节及抑制性突触后电位在未成熟兔海马切片癫痫发作和扩散性抑制中的作用
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