Associated Papers
Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.
Manville RW et al.
Iscience, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 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
Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study.
Alghamdi MA et al.
Medicina (kaunas, Lithuania), 2025
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 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
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 2023
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Döring JH et al.
International Journal of Molecular Sciences, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human 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
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
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA et al.
Neurology, 2016
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