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
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
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
37107571 (PubMed )
Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora MI et al.
Orphanet Journal of Rare Diseases, 2022
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
APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.
Roper N et al.
Cell Reports, 2019
30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA004
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
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