Associated Papers
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
Kv2.1 voltage-gated potassium channels in developmental perspective.
Jędrychowska J et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2019
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK et al.
Annals of Neurology, 2019
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
Novel KCNB1 mutation associated with non-syndromic intellectual disability.
Latypova X et al.
Journal of Human Genetics, 2017
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