Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.R330L
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KCNQ3

NM_004519.4:p.R330L

Associated Papers

Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.

Wu X et al.

Neuroscience Bulletin, 2025

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.

Nappi P et al.

Pflugers Archiv : European Journal of Physiology, 2020

Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Kessi M et al.

Frontiers in Genetics, 2020

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.

Miceli F et al.

Frontiers in Physiology, 2020

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K et al.

Seizure, 2018

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Miceli F et al.

Epilepsia, 2015

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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."