Associated Papers
Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.
Wu X et al.
Neuroscience Bulletin, 2025
Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.
Ye J et al.
Frontiers in Molecular Neuroscience, 2023
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of 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
Nervous system KV7 disorders: breakdown of a subthreshold brake.
Maljevic S et al.
The Journal of Physiology, 2008
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.
Li H et al.
Epilepsy Research, 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
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
Potassium channels: molecular defects, diseases, and therapeutic opportunities.
Shieh CC et al.
Pharmacological Reviews, 2000
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
Miraglia del Giudice E et al.
European Journal of Human Genetics : Ejhg, 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
Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.
Schwake M et al.
The Journal of Biological Chemistry, 2000
The neuronal nicotinic acetylcholine receptor in some hereditary epilepsies.
Barrantes FJ et al.
Neurochemical Research, 2000