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
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.
De Wachter M et al.
Epilepsia, 2025
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
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
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-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R et al.
Neuropediatrics, 2023
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Dirkx N et al.
Bmc Biology, 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
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
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.
Amore G 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
Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology.
Carvill GL et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.
Kelly JP et al.
Investigative Ophthalmology & Visual Science, 2021
Kv7 Channels and Excitability Disorders.
Jones F et al.
Handbook of Experimental Pharmacology, 2021
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F et al.
Neurology. Genetics, 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