Associated Papers
Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: A narrative review.
Alam KA et al.
Neuroscience and Biobehavioral Reviews, 2023
A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.
Veale EL et al.
Frontiers in Pharmacology, 2022
The association between gene polymorphisms in voltage-gated potassium channels Kv2.1 and Kv4.2 and susceptibility to autism spectrum disorder.
Liu Z et al.
Frontiers in Psychiatry, 2022
Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder.
Xiong J et al.
Frontiers in Pediatrics, 2021
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
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Marini C et al.
Neurology. 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
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Precision physiology and rescue of brain ion channel disorders.
Noebels J
The Journal of General Physiology, 2017
Novel KCNB1 mutation associated with non-syndromic intellectual disability.
Latypova X et al.
Journal of Human Genetics, 2017
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
Thiffault I et al.
The Journal of General Physiology, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
Saitsu H et al.
Scientific Reports, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014