Associated Papers
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y et al.
Frontiers in Neurology, 2024
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.
Hiraide T et al.
Journal of Human Genetics, 2023
A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.
Veale EL et al.
Frontiers in Pharmacology, 2022
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
Autism throughout genetics: Perusal of the implication of ion channels.
Daghsni M et al.
Brain and Behavior, 2018
Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy.
Calhoun JD et al.
Neurology. Genetics, 2017
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