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
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 2023
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
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
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE et al.
Molecular Genetics & Genomic Medicine, 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
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