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
Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.
Xiong J et al.
Epilepsia, 2026
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Genotype-driven therapeutics in DEE and metabolic epilepsy: navigating treatment efficacy and drug resistance.
Nguyen YTM et al.
Scientific Reports, 2024
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
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
Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.
Yang GM et al.
Acta Pharmacologica Sinica, 2023
Genetic and clinical variations of developmental epileptic encephalopathies.
Kaya Özçora GD et al.
Neurological Research, 2023
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
Chokvithaya S et al.
Scientific Reports, 2023
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.
Verdez S et al.
The Pharmacogenomics Journal, 2022
A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.
Liu HF et al.
Molecular Medicine Reports, 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
Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies.
Goodspeed K et al.
Frontiers in Neurology, 2022
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
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
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F et al.
Neurology. Genetics, 2020
KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood.
Mastrangelo M et al.
Neurology. Genetics, 2020
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
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
KCNQs: Ligand- and Voltage-Gated Potassium Channels.
Abbott GW
Frontiers in Physiology, 2020
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
Ware TL et al.
Epilepsia Open, 2019
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
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 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