Associated Papers
Kcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy.
Nishijo T et al.
Acta Neuropathologica Communications, 2026
Kcnq (Kv7) channels exhibit frequency-dependent responses via partial inductor-like gating dynamics.
Eguchi Y et al.
Communications Biology, 2025
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China.
Cao B et al.
The Turkish Journal of Pediatrics, 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
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 2023
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R et al.
Neuropediatrics, 2023
Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C).
Stewart R et al.
Stem Cell Research, 2023
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
Graifman JL et al.
Epilepsia, 2023
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
Chokvithaya S et al.
Scientific Reports, 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
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies.
Goodspeed K et al.
Frontiers in Neurology, 2022
Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y et al.
Bmc Pediatrics, 2021
Structural Mechanism of ω-Currents in a Mutated Kv7.2 Voltage Sensor Domain from Molecular Dynamics Simulations.
Alberini G et al.
Journal of Chemical Information and Modeling, 2021
Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes.
Lee IC et al.
Scientific Reports, 2020
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
Miceli F et al.
Frontiers in Physiology, 2020
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan.
Lee IC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Abnormal γ-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy.
Uchida T et al.
Epilepsia, 2017
KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.
Lee IC et al.
Journal of Child Neurology, 2017
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M et al.
Journal of Human Genetics, 2017
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 2016
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Milh M et al.
American Journal of Medical Genetics. Part A, 2015
Advancing epilepsy genetics in the genomic era.
Myers CT et al.
Genome Medicine, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
Grinton BE et al.
Epilepsia, 2015
Early and effective treatment of KCNQ2 encephalopathy.
Pisano T et al.
Epilepsia, 2015