Article

Clinical characteristics and genetic analysis of DEPDC5 gene variants related epilepsy in Chinese children

2025-12-30

Abstract excerpt

<title>Abstract</title> <p>Background To explore the clinical and genetic characteristics of patients with DEPDC5-related epilepsy in Chinese children. Methods The clinical manifestations, electroencephalogram (EEG), brain imaging, gene variations and treatments of 11 patients with DEPDC5-related epilepsy admitted to the pediatric ward of Xuanwu Hospital, Capital Medical University from July 2022 to July 2024 w...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0780e262-3049-5373-9f16-7bb5c45a852e
DOI: 10.21203/rs.3.rs-7874206/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical characteristics and genetic analysis of DEPDC5 gene variants related epilepsy in Chinese childrenDOI 10.21203/rs.3.rs-7874206/v1Read

[Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].Semantic proximity Read

DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.Semantic proximity Read

[Research progress on DEPDC5 gene related epilepsy].Semantic proximity Read

DEPDC5 does it all: shared genetics for diverse epilepsy syndromes.Semantic proximity Read

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.Semantic proximity Read

Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature ReviewSemantic proximity Read

Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.Semantic proximity Read

Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.Semantic proximity Read

Exome Sequencing of 963 Chinese Families Identifies Novel Epilepsy Candidate GenesSemantic proximity Read

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.Semantic proximity Read

Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.Semantic proximity Read

Phenotypic and genotypic characteristics of children STXBP1-related disorders.Semantic proximity Read