Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.R897K
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CACNA1S

NM_000069.3:p.R897K

Associated Papers

Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.

Barrachina-Esteve O et al.

Neuromuscular Disorders : Nmd, 2025

Periodic paralysis.

Cannon SC

Handbook of Clinical Neurology, 2024

A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.

Zhou W et al.

Bmc Pediatrics, 2023

Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.

Kubota T et al.

Disease Models & Mechanisms, 2023

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.

Kubota T et al.

Brain Communications, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."