Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.
Veale EL et al.
Frontiers in Pharmacology, 2022
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
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Marini C et al.
Neurology. Genetics, 2017
[A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature].
Miao P et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
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