Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.A306V
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KCNQ3

NM_004519.4:p.A306V

Associated Papers

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.

Bidwell JS et al.

Epilepsia Open, 2025

41250984 (PubMed )
Supplement: EPI4-11-190-s002.xlsx › Dataset_S1

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

Wu X et al.

Neuroscience Bulletin, 2025

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.

Tozkir H et al.

Genes, 2025

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.

Vanoye CG et al.

Jci Insight, 2022

35104249 (PubMed )
Supplement: jciinsight-7-156314-s075.pdf

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Millichap JJ et al.

Neurology. Genetics, 2016

27602407 (PubMed )
Supplement: supp_2.5.e96_tables.docx
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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."