Associated Papers
KCNB1 mutation impairs neuronal differentiation by disrupting gene expression temporal regulation and neuron-specific pathways.
Guo Y et al.
Frontiers in Neurology, 2026
Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant.
Bortolami A et al.
Communications Biology, 2024
KCNB1-Leptin receptor complexes couple electric and endocrine function in the melanocortin neurons of the hypothalamus.
Forzisi-Kathera-Ibarra E et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.
Kang SK et al.
Neurobiology of Disease, 2024
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.
Ferrera G et al.
Neurocase, 2024
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
Ion channels in neurodevelopment: lessons from the Integrin-KCNB1 channel complex.
Bortolami A et al.
Neural Regeneration Research, 2023
Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.
Kang SK et al.
Biorxiv : the Preprint Server for Biology, 2023
Integrin-KCNB1 potassium channel complexes regulate neocortical neuronal development and are implicated in epilepsy.
Bortolami A et al.
Cell Death and Differentiation, 2023
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Bar C et al.
Epilepsy & Behavior : E&b, 2022
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
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C et al.
Epilepsia, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
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
Complexes formed with integrin-α5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity via Ras and Akt signaling.
Yu W et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Case report: mutation analysis of primary pulmonary lymphoepithelioma-like carcinoma via whole-exome sequencing.
Xuan H et al.
Diagnostic Pathology, 2019
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Kessi M et al.
Bmc Genetics, 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
Novel KCNB1 mutation associated with non-syndromic intellectual disability.
Latypova X et al.
Journal of Human Genetics, 2017
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
Kv Channel S1-S2 Linker Working as a Binding Site of Human β-Defensin 2 for Channel Activation Modulation.
Feng J et al.
The Journal of Biological Chemistry, 2015