Associated Papers
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
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
KCNQ2 channels regulate the population activity of neonatal GABAergic neurons ex vivo.
Hou B et al.
Frontiers in Neurology, 2023
Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.
Ye J et al.
Frontiers in Molecular Neuroscience, 2023
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.
Lee IC et al.
Cells, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Heterozygous Deletion of Epilepsy Gene KCNQ2 Has Negligible Effects on Learning and Memory.
Tracy GC et al.
Frontiers in Behavioral Neuroscience, 2022
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
Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.
Kim EC et al.
Genes, Brain, and Behavior, 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 Kv7.2 in Neurodevelopment: Insights and Gaps in Our Understanding.
Dirkx N et al.
Frontiers in Physiology, 2020
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.
Laccetta G et al.
Frontiers in Pediatrics, 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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Abnormal γ-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy.
Uchida T et al.
Epilepsia, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
Fung CW et al.
Epilepsia Open, 2017
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M et al.
Journal of Human Genetics, 2017
Endoplasmic reticulum retention of KCNQ2 potassium channel mutants following temperature elevation.
Yu F et al.
Bio-medical Materials and Engineering, 2017
Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.
Soldovieri MV et al.
Scientific Reports, 2016
Rapid and efficient CRISPR/Cas9 gene inactivation in human neurons during human pluripotent stem cell differentiation and direct reprogramming.
Rubio A et al.
Scientific Reports, 2016
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.
Ihara Y et al.
Plos One, 2016