Associated Papers
Biomarker discovery in Lennox-Gastaut syndrome: Advances and challenges in electrophysiological, genetic, neuroimaging, and neuroinflammatory approaches.
Samanta D et al.
Epilepsy & Behavior : E&b, 2026
Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.
Hammer MF
Bioscience Reports, 2025
Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome.
Christensen AH et al.
European Heart Journal, 2025
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
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
Efficacy of ethosuximide on atonic seizures with KCNB1 mutation.
Hoshino H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
[Variability of the clinical expression of KCNB1 encephalopathy].
Púa-Torrejón RC et al.
Revista De Neurologia, 2021
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.
Hawkins NA et al.
Neurobiology of Disease, 2021
Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.
Xu C et al.
Journal of Central Nervous System Disease, 2021
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
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
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
Novel KCNB1 mutation associated with non-syndromic intellectual disability.
Latypova X et al.
Journal of Human Genetics, 2017
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
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
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
De novo KCNB1 mutations in epileptic encephalopathy.
Torkamani A et al.
Annals of Neurology, 2014