Associated Papers
Genomics and epilepsy: Opportunities to improve understanding and management.
Sisodiya SM
Developmental Medicine and Child Neurology, 2026
Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.
Manville RW et al.
Iscience, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy.
Kaki A et al.
Neurogenetics, 2025
Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.
Xie C et al.
Molecular Neurobiology, 2024
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.
Ng AC et al.
Journal of Neurology, 2024
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 2023
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.
Imbrici P et al.
International Journal of Molecular Sciences, 2021
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich UBS et al.
Science Translational Medicine, 2021
Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies.
Pan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Döring JH et al.
International Journal of Molecular Sciences, 2021
Slc7a5 alters Kvβ-mediated regulation of Kv1.2.
Lamothe SM et al.
The Journal of General Physiology, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations.
Baronas VA et al.
Nature Communications, 2018
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S et al.
Brain : a Journal of Neurology, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Helbig KL et al.
Annals of Neurology, 2016
Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
Hundallah K et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.
Drögemöller BI
Clinical Genetics, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S et al.
Nature Genetics, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015