Associated Papers
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.
Joseph BJ et al.
Nature Neuroscience, 2025
Delayed excitability recovery and downregulation of neurodevelopmental pathways contribute to phenotypic differences in KCNQ2-related disorders.
Wang Y et al.
Epilepsia, 2025
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Developmental dysfunction in a preclinical model of Kcnq2 developmental and epileptic encephalopathy.
Mao M et al.
Neurobiology of Disease, 2025
Glial KCNQ K+ channels control neuronal output by regulating GABA release from glia in C. elegans.
Graziano B et al.
Neuron, 2024
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.
Saez-Matia A et al.
International Journal of Molecular Sciences, 2024
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
Chokvithaya S et al.
Scientific Reports, 2023
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.
Amore G et al.
Frontiers in Neurology, 2022
Heterozygous Deletion of Epilepsy Gene KCNQ2 Has Negligible Effects on Learning and Memory.
Tracy GC et al.
Frontiers in Behavioral Neuroscience, 2022
Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.
Kojima T et al.
Disease Models & Mechanisms, 2021
Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter.
Nissenkorn A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Kv7 Channels and Excitability Disorders.
Jones F et al.
Handbook of Experimental Pharmacology, 2021
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of Physiology, 2020
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Milh M et al.
Epilepsia, 2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
Potassium channels act as chemosensors for solute transporters.
Manville RW et al.
Communications Biology, 2020
Two KCNQ2 Encephalopathy Variants in the Calmodulin-Binding Helix A Exhibit Dominant-Negative Effects and Altered PIP2 Interaction.
Tran B et al.
Frontiers in Physiology, 2020
The Role of Kv7 Channels in Neural Plasticity and Behavior.
Baculis BC et al.
Frontiers in Physiology, 2020
The Role of Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding.
Dirkx N et al.
Frontiers in Physiology, 2020