Associated Papers
Kcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy.
Nishijo T et al.
Acta Neuropathologica Communications, 2026
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
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 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
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R et al.
Neuropediatrics, 2023
Time-limited alterations in cortical activity of a knock-in mouse model of KCNQ2-related developmental and epileptic encephalopathy.
Biba-Maazou N et al.
The Journal of Physiology, 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
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
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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons.
Niday Z et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
Early and effective treatment of KCNQ2 encephalopathy.
Pisano T et al.
Epilepsia, 2015
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Orhan G et al.
Annals of Neurology, 2014
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S et al.
Annals of Neurology, 2012