Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.
Bidwell JS et al.
Epilepsia Open, 2025
Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders.
Wang Y et al.
Epilepsia, 2025
Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.
Sunnetci-Akkoyunlu D et al.
Genes, 2025
Machine Learning Resolves Functional Phenotypes and Therapeutic Responses in KCNQ2 Developmental Epileptic Encephalopathy iPSC Models.
Simkin D et al.
Biorxiv : the Preprint Server for Biology, 2025
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
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R et al.
Neuropediatrics, 2023
Fifty years of gating currents and channel gating.
Catacuzzeno L et al.
The Journal of General Physiology, 2023
Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.
Yang GM et al.
Acta Pharmacologica Sinica, 2023
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy.
Knight D et al.
Epilepsia, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Zion TN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.
Agarwala P et al.
Brain Communications, 2023
Epilepsy phenotype and response to KCNQ openers in mice harboring the Kcnq2 R207W voltage-sensor mutation.
Tian F et al.
Neurobiology of Disease, 2022
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O et al.
Clinical Genetics, 2022
Adult phenotype of KCNQ2 encephalopathy.
Boets S et al.
Journal of Medical Genetics, 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
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.
Cornet MC et al.
Epilepsia, 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
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
Ruiz Herrero J et al.
Nutrients, 2021
Activation of SGK1.1 Upregulates the M-current in the Presence of Epilepsy Mutations.
Martin-Batista E et al.
Frontiers in Molecular Neuroscience, 2021
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
Electrophysiological and pharmacological characterization of a novel and potent neuronal Kv7 channel opener SCR2682 for antiepilepsy.
Zhang F et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019