Associated Papers
Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.
Wu X et al.
Neuroscience Bulletin, 2025
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome.
Piro E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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 of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
Miceli F et al.
Epilepsia, 2015
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Soldovieri MV et al.
Human Mutation, 2014
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
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
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
[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
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