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Article

[Clinical features of KCNB1 gene variation related developmental and epileptic encephalopathy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2024

Zeng Q, Yang Y, Cheng M M, Wang T, Tan Q Z, Liu C H, Yang X L, Liao J X, Zhang Y H

Abstract excerpt

Objective: To summarize the clinical features of epilepsy and (or) developmental delay associated with KCNB1 gene variants in children. Methods: A case series study was conducted on 24 children with KCNB1 gene variants associated with epilepsy and (or) developmental delay who were treated at the Children's Medical Center of Peking University First Hospital and the Department of Neurology of Shenzhen Children's...

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Child, Preschool
Developmental Disabilities
Electroencephalography
Epilepsy
Infant

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PMID: 39429078
DOI: 10.3760/cma.j.cn112140-20240429-00299

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