Associated Papers
The conductance of KCNQ2 and its pathogenic variants is determined by individual subunit gating.
Hinojo-Perez A et al.
Science Advances, 2025
Lipophilic compounds restore function to neurodevelopmental-associated KCNQ3 mutations.
Edmond MA et al.
Communications Biology, 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
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
Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels.
Edmond MA et al.
Elife, 2022
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee J et al.
Molecular Genetics & Genomic Medicine, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
[The Function of Potassium Channel in KCNQ2 G271V Mutants of Benign Familial Neonatal Convulsions].
Hui ZY et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 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
Endoplasmic reticulum retention of KCNQ2 potassium channel mutants following temperature elevation.
Yu F et al.
Bio-medical Materials and Engineering, 2017
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
The human ether-a-go-go-related gene activator NS1643 enhances epilepsy-associated KCNQ channels.
Li P et al.
The Journal of Pharmacology and Experimental Therapeutics, 2014
The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.
Miceli F et al.
Frontiers in Pharmacology, 2011
Novel mutation in KCNQ2 causing benign familial neonatal seizures.
Goldberg-Stern H et al.
Pediatric Neurology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
Sadewa AH et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2008
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
Soldovieri MV et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.
Hunter J et al.
Neurobiology of Disease, 2006
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
de Haan GJ et al.
Epilepsia, 2006
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
Richards MC et al.
Journal of Medical Genetics, 2004
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
Singh NA et al.
Brain : a Journal of Neurology, 2003
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.
Castaldo P et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2002
Ion channel variation causes epilepsies.
Moulard B et al.
Brain Research. Brain Research Reviews, 2001