Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.S779N
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ATP1A2

NM_000702.4:p.S779N

Associated Papers

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches.

Alfayyadh MM et al.

Genes, 2024

Periodic paralysis.

Cannon SC

Handbook of Clinical Neurology, 2024

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.

Zhang X et al.

Molecular Genetics & Genomic Medicine, 2023

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Sampedro Castañeda M et al.

Brain : a Journal of Neurology, 2018

[A hypotonic patient wit hypokalemic periodic paralysis and myopathic pathology associated with nucleolysis].

Oho Y et al.

No to Hattatsu = Brain and Development, 1987

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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."