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
Small molecule inhibits KCNQ channels with a non-blocking mechanism.
Li J et al.
Nature Chemical Biology, 2025
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 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
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
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
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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Mulkey SB et al.
Epilepsia, 2017
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.
Devaux J et al.
Epilepsia, 2016
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Milh M et al.
American Journal of Medical Genetics. Part A, 2015
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Milh M et al.
Orphanet Journal of Rare Diseases, 2013