Associated Papers
Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.
Wu X et al.
Neuroscience Bulletin, 2025
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.
De Wachter M et al.
Epilepsia, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Donepezil as a new therapeutic potential in KCNQ2- and KCNQ3-related autism.
Nissenkorn A et al.
Frontiers in Cellular Neuroscience, 2024
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
KCNQ potassium channels modulate Wnt activity in gastro-oesophageal adenocarcinomas.
Shorthouse D et al.
Life Science Alliance, 2023
KCNQ2/3 Gain-of-Function Variants and Cell Excitability: Differential Effects in CA1 versus L2/3 Pyramidal Neurons.
Varghese N et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.
Ye J et al.
Frontiers in Molecular Neuroscience, 2023
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N et al.
Archives of Iranian Medicine, 2022
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
Arredondo K et al.
Journal of Child Neurology, 2022
KCNQ2 and KCNQ5 form heteromeric channels independent of KCNQ3.
Soh H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Autism-associated mutations in KV7 channels induce gating pore current.
Gamal El-Din TM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Potassium channels and autism spectrum disorder: An overview.
Cheng P et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F et al.
Brain Sciences, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders.
Springer K et al.
Developmental Neuroscience, 2021
Kv7 Channels and Excitability Disorders.
Jones F et al.
Handbook of Experimental Pharmacology, 2021
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C et al.
Plos One, 2021
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
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT et al.
Annals of Neurology, 2019
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Trinh J et al.
Journal of Neurodevelopmental Disorders, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening.
Barro-Soria R
The Journal of General Physiology, 2019
Investigating an epileptogenic mutation.
Sedwick C
The Journal of General Physiology, 2019
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Millichap JJ et al.
Epilepsia, 2017
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
Miceli F et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
Hoischen A et al.
Nature Neuroscience, 2014
Disease-linked supertrafficking of a potassium channel.
Huang H et al.
The Journal of Biological Chemistry, 0