Varaico: Literature-Extracted Genetic Variants

Gene:KCNN2
Variant:p.V362I
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KCNN2

NM_021614.4:p.V362I

Associated Papers

Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia.

Pauly MG et al.

Parkinsonism & Related Disorders, 2025

KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation.

Lavenstein B et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Mochel F et al.

Brain : a Journal of Neurology, 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."