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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.

Abstract
摘要

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本文引用的文献

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052.
2
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.
Front Neurol. 2021 Apr 1;12:637890. doi: 10.3389/fneur.2021.637890. eCollection 2021.
4
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Dev Med Child Neurol. 2021 Jan;63(1):111-115. doi: 10.1111/dmcn.14666. Epub 2020 Sep 7.
6
Na+, K+-ATPase: functions in the nervous system and involvement in neurologic disease.
Neurology. 2011 Jan 18;76(3):287-93. doi: 10.1212/WNL.0b013e3182074c2f.
7
Nobel Lecture. The identification of the sodium pump.
Biosci Rep. 1998 Aug;18(4):155-69. doi: 10.1023/a:1020196612909.

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