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
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
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
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Döring JH et al.
International Journal of Molecular Sciences, 2021
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC et al.
International Journal of Molecular Sciences, 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 from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.
Schwarz N et al.
Stem Cell Research, 2018
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S et al.
Brain : a Journal of Neurology, 2017
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