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
Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.
Bidwell JS et al.
Epilepsia Open, 2025
Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.
Wu X et al.
Neuroscience Bulletin, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Small molecule inhibits KCNQ channels with a non-blocking mechanism.
Li J et al.
Nature Chemical Biology, 2025
Kcnq (Kv7) channels exhibit frequency-dependent responses via partial inductor-like gating dynamics.
Eguchi Y et al.
Communications Biology, 2025
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.
De Wachter M et al.
Epilepsia, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 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
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
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
Identifying the mechanism of action of the Kv7 channel opener, retigabine in the treatment of epilepsy.
Zahra A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
KCNQ2/3 Gain-of-Function Variants and Cell Excitability: Differential Effects in CA1 versus L2/3 Pyramidal Neurons.
Varghese N et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F et al.
Ebiomedicine, 2022
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Mary L et al.
American Journal of Medical Genetics. Part A, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Kv7 Channels and Excitability Disorders.
Jones F et al.
Handbook of Experimental Pharmacology, 2021