Associated Papers
Functional characterization and in vitro pharmacological rescue of a novel KCNA2 variant associated with developmental and epileptic encephalopathy.
Xie C et al.
Neuroscience, 2025
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
Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.
Xie C et al.
Molecular Neurobiology, 2024
PHACT: Phylogeny-Aware Computing of Tolerance for Missense Mutations.
Kuru N et al.
Molecular Biology and Evolution, 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
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich UBS et al.
Science Translational Medicine, 2021
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Hully M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C et al.
American Journal of Medical Genetics. Part A, 2021
Tracking the motion of the KV1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy.
Pantazis A et al.
The Journal of Physiology, 2020
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K et al.
International Journal of Molecular Sciences, 2020
Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.
Uysal B et al.
Stem Cell Research, 2019
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S et al.
Brain : a Journal of Neurology, 2017
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Helbig KL et al.
Annals of Neurology, 2016
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S et al.
Nature Genetics, 2015