Associated Papers
Biophysical and structural mechanisms of epilepsy-associated mutations in the S4-S5 Linker of KCNQ2 channels.
Lee IC et al.
Channels (austin, Tex.), 2025
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-s001.pdf
KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.
Wong SH et al.
Epilepsy & Behavior : E&b, 2024
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.
Saez-Matia A et al.
International Journal of Molecular Sciences, 2024
38474157 (PubMed )
Supplement: ijms-25-02910-s001.zip › Supp_Data_1_FINAL_DATASET_KCNQ2.xlsx › Pathogenic
Variant interpretation: UCSC Genome Browser Recommended Track Sets.
Benet-Pagès A et al.
Human Mutation, 2022
Difficulties of Prenatal Genetic Counseling for a Subsequent Child in a Family With Multiple Genetic Variations.
Huang TX et al.
Frontiers in Genetics, 2021
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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