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-s001.pdf
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 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_3_KCNQ2_All_Predictions.xlsx › CatBoost
Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.
Yang GM et al.
Acta Pharmacologica Sinica, 2023
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
Denisova E et al.
Cancer Gene Therapy, 2022
34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-ESMKCH
KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.
Lee IC et al.
Cells, 2022
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
32179837 (PubMed )
Supplement: 41598_2020_61697_MOESM2_ESM.pdf
Two KCNQ2 Encephalopathy Variants in the Calmodulin-Binding Helix A Exhibit Dominant-Negative Effects and Altered PIP2 Interaction.
Tran B et al.
Frontiers in Physiology, 2020
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.
Laccetta G et al.
Frontiers in Pediatrics, 2019
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
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
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Milh M et al.
American Journal of Medical Genetics. Part A, 2015
Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsy.
Wang J et al.
Brain Research, 2015
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Orhan G et al.
Annals of Neurology, 2014
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Kato M et al.
Epilepsia, 2013
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S et al.
Annals of Neurology, 2012
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