Associated Papers
Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.
Wu X et al.
Neuroscience Bulletin, 2025
Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: A narrative review.
Alam KA et al.
Neuroscience and Biobehavioral Reviews, 2023
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
Boßelmann CM et al.
Ebiomedicine, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
Miceli F et al.
Frontiers in Physiology, 2020
[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 of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsy.
Wang J et al.
Brain Research, 2015
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
Miceli F et al.
Epilepsia, 2015
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.
Fister P et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.
Vacher H et al.
Epilepsia, 2012
Site-directed mutagenesis of neonatal convulsions associated KCNQ2 gene and its protein expression.
Zhou XH et al.
Translational Pediatrics, 2012
Regions of KCNQ K(+) channels controlling functional expression.
Choveau FS et al.
Frontiers in Physiology, 2012
Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).
Sugiura Y et al.
Epilepsy Research, 2009
Nervous system KV7 disorders: breakdown of a subthreshold brake.
Maljevic S et al.
The Journal of Physiology, 2008
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
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.
Li H et al.
Epilepsy Research, 2008
Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy.
Uehara A et al.
The Journal of Membrane Biology, 2008
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.
Zhou X et al.
European Journal of Pediatrics, 2006
[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].
Li HY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
[A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].
Zhou XH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
de Haan GJ et al.
Epilepsia, 2006
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.
Combi R et al.
Journal of Neurology, 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
Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population.
Vijai J et al.
Human Genetics, 2003
Ion channel variation causes epilepsies.
Moulard B et al.
Brain Research. Brain Research Reviews, 2001
Potassium channels: molecular defects, diseases, and therapeutic opportunities.
Shieh CC et al.
Pharmacological Reviews, 2000
Neuronal KCNQ potassium channels: physiology and role in disease.
Jentsch TJ
Nature Reviews. Neuroscience, 2000
Decreased cerebrospinal fluid levels of beta-phenylethylamine in patients with Rett syndrome.
Satoi M et al.
Annals of Neurology, 2000
A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.
Hirose S et al.
Annals of Neurology, 2000