Associated Papers
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review.
Cui F et al.
Frontiers in Genetics, 2024
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC et al.
Annals of Neurology, 2023
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
Jackson A et al.
American Journal of Medical Genetics. Part A, 2021
Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy.
Gong P et al.
Frontiers in Genetics, 2021
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.
Mao X et al.
Frontiers in Cellular Neuroscience, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ambrosino P et al.
Annals of Neurology, 2018
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Gururaj S et al.
Cell Reports, 2017
Structural basis of ion permeation gating in Slo2.1 K+ channels.
Garg P et al.
The Journal of General Physiology, 2013
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
Moore I et al.
Blood, 2010
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