Associated Papers
Kv4.2V404M Mutation Induces Epileptiform Activity and Multiple Behavioral Abnormalities in Heterozygous Knock-in Mice.
Jerng HH et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2026
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
Ion currents through the voltage sensor domain of distinct families of proteins.
Arcos-Hernández C et al.
Journal of Biological Physics, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients.
Bavan S et al.
Human Mutation, 2022
Activation and closed-state inactivation mechanisms of the human voltage-gated KV4 channel complexes.
Ye W et al.
Molecular Cell, 2022
The association between gene polymorphisms in voltage-gated potassium channels Kv2.1 and Kv4.2 and susceptibility to autism spectrum disorder.
Liu Z et al.
Frontiers in Psychiatry, 2022
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang Y et al.
Human Molecular Genetics, 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
Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.
Nakajima T et al.
International Journal of Molecular Sciences, 2021
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.
Schafer ST et al.
Nature Neuroscience, 2019
Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.
Lin MA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.
Lin CY et al.
Scientific Reports, 2018
Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology.
Sener EF et al.
Psychiatry Investigation, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.
Guglielmi L et al.
Frontiers in Cellular Neuroscience, 2015
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
Lee H et al.
Human Molecular Genetics, 2014