Associated Papers
Neurocardiac pathologies associated with potassium channelopathies.
Singh V et al.
Epilepsia, 2024
A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.
Veale EL et al.
Frontiers in Pharmacology, 2022
Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder.
Xiong J et al.
Frontiers in Pediatrics, 2021
35071126 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C et al.
Human Mutation, 2020
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK et al.
Annals of Neurology, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Marini C et al.
Neurology. Genetics, 2017
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.
Stipoljev F et al.
European Journal of Medical Genetics, 2017
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF et al.
Jama Neurology, 2017
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.
Pal LR et al.
Human Mutation, 2017
Novel KCNB1 mutation associated with non-syndromic intellectual disability.
Latypova X et al.
Journal of Human Genetics, 2017
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
Saitsu H et al.
Scientific Reports, 2015
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