Found: 5
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De novo Y1460C missense variant in Na<sub>V</sub>1.1 impedes the pore region and results in epileptic encephalopathy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22208-x
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- Article
R1617Q epilepsy mutation slows Na<sub>V</sub>1.6 sodium channel inactivation and increases the persistent current and neuronal firing.
- Published in:
- Journal of Physiology, 2021, v. 599, n. 5, p. 1651, doi. 10.1113/JP280838
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- Article
Na<sub>V</sub>1.5 knockout in iPSCs: a novel approach to study Na<sub>V</sub>1.5 variants in a human cardiomyocyte environment.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96474-6
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- Article
iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82007-8
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- Article
Pyridoxal-5′-phosphate (MC-1), a vitamin B6 derivative, inhibits expressed P2X receptors.
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- Canadian Journal of Physiology & Pharmacology, 2014, v. 92, n. 3, p. 189, doi. 10.1139/cjpp-2013-0404
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- Article