Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Review on the role of hippocampus in autism spectrum disorder: Recent insights into neuropathology, genetics, and emerging therapeutic strategies.
Bhamidimarri PM et al.
Neurobiology of Disease, 2026
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy.
Mitsutake A et al.
Internal Medicine (tokyo, Japan), 2025
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
KCNH5 deletion increases autism susceptibility by regulating neuronal growth through Akt/mTOR signaling pathway.
Yu L et al.
Behavioural Brain Research, 2024
Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children.
Huang S et al.
Epilepsy & Behavior Reports, 2024
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC et al.
Neurology, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
Boßelmann CM et al.
Ebiomedicine, 2022
Clinical Feature, Treatment, and KCNH5 Mutations in Epilepsy.
Hu X et al.
Frontiers in Pediatrics, 2022
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
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
Ichise E et al.
Human Molecular Genetics, 2021
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Ether-à-go-go K+ channels: effective modulators of neuronal excitability.
Bauer CK et al.
The Journal of Physiology, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
Miceli F et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.
Huang J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014
Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state.
Yang Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR et al.
Epilepsia, 2013