Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
Lipophilic compounds restore function to neurodevelopmental-associated KCNQ3 mutations.
Edmond MA et al.
Communications Biology, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Donepezil as a new therapeutic potential in KCNQ2- and KCNQ3-related autism.
Nissenkorn A et al.
Frontiers in Cellular Neuroscience, 2024
KCNQ potassium channels modulate Wnt activity in gastro-oesophageal adenocarcinomas.
Shorthouse D et al.
Life Science Alliance, 2023
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Moresco G et al.
Genes & Genomics, 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
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
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
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT et al.
Annals of Neurology, 2019