Associated Papers
Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.
Xiong J et al.
Epilepsia, 2026
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
Small molecule inhibits KCNQ channels with a non-blocking mechanism.
Li J et al.
Nature Chemical Biology, 2025
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.
De Wachter M et al.
Epilepsia, 2025
The conductance of KCNQ2 and its pathogenic variants is determined by individual subunit gating.
Hinojo-Perez A et al.
Science Advances, 2025
Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy.
Mao M et al.
Neurobiology of Disease, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.
Andjelkovic M et al.
Molecular Diagnosis & Therapy, 2024
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.
Lee S et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.
Han M et al.
Molecular Genetics & Genomic Medicine, 2024
Glial KCNQ K+ channels control neuronal output by regulating GABA release from glia in C. elegans.
Graziano B et al.
Neuron, 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
Phox2b-expressing neurons contribute to breathing problems in Kcnq2 loss- and gain-of-function encephalopathy models.
Soto-Perez J et al.
Nature Communications, 2023
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 2023
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-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R et al.
Neuropediatrics, 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
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Dirkx N et al.
Bmc Biology, 2023
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.
Casas-Alba D et al.
Pediatric Neurology, 2023
Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.
Ye J et al.
Frontiers in Molecular Neuroscience, 2023
The long and winding road to personalized medicine in KCNMA1-linked channelopathies revealed by novel variants associated with the Liang-Wang syndrome.
Soldovieri MV et al.
Acta Physiologica (oxford, England), 2022
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
Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels.
Edmond MA et al.
Elife, 2022
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022