Associated Papers
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
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun H et al.
Life (basel, Switzerland), 2021
Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy.
Gong P et al.
Frontiers in Genetics, 2021
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
Inuzuka LM et al.
Brain & Development, 2020
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