Associated Papers
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
Uctepe E et al.
Intractable & Rare Diseases Research, 2022
Efficacy of ethosuximide on atonic seizures with KCNB1 mutation.
Hoshino H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variant.
Lu JM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liu L et al.
Molecular Genetics & Genomic Medicine, 2021
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C et al.
Epilepsia, 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
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF et al.
Jama Neurology, 2017
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