Associated Papers
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
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
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L et al.
Orphanet Journal of Rare Diseases, 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
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Marini C et al.
Neurology. Genetics, 2017
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