Article

Next-Generation Sequencing Unravels the Genetic Landscape of Unexplained Neonatal Seizures in a Chinese Cohort

2025-05-13

Abstract excerpt

<title>Abstract</title> <p>Purpose This study aimed to investigate the genetic spectrum of unexplained neonatal seizures in a Chinese population. Methods We retrospectively analyzed 40 neonates with unexplained seizures admitted to a neonatal intensive care unit at a tertiary hospital between 2016 and 2024. Whole-exome sequencing (WES), clinical exome sequencing, trio-WES, and mitochondrial DNA analysis were pe...

Topics

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

Identifiers and source

Literature Corpus work: 7b334618-52fa-56b7-89fb-9ba464e4c0a1
DOI: 10.21203/rs.3.rs-6573736/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Next-Generation Sequencing Unravels the Genetic Landscape of Unexplained Neonatal Seizures in a Chinese CohortDOI 10.21203/rs.3.rs-6573736/v1Read

Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.Semantic proximity Read

Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: A single-center cohort studySemantic proximity Read

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Semantic proximity Read

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center studySemantic proximity Read

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.Semantic proximity Read

Clinical and molecular diagnostic study of 320 Chinese children with epilepsy by Genome SequencingSemantic proximity Read

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencingSemantic proximity Read

Whole exome sequencing as the first-tier test for patients in neonatal intensive care unit: A Chinese single-center studySemantic proximity Read

Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.Semantic proximity Read

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.Semantic proximity Read

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathySemantic proximity Read

Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.Semantic proximity Read