Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.Y141N
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KCNQ2

NM_172107.4:p.Y141N

Associated Papers

A Novel KCNQ2 Gain-of-Function Variant I134N Causes Severe Developmental and Epileptic Encephalopathy.

Zeng F et al.

American Journal of Medical Genetics. Part A, 2026

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.

De Wachter M et al.

Epilepsia, 2025

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.

Bayat A et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2024

Donepezil as a new therapeutic potential in KCNQ2- and KCNQ3-related autism.

Nissenkorn A et al.

Frontiers in Cellular Neuroscience, 2024

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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."