ArticleScientific reports2017
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
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- Seven-Year Longitudinal Respiratory Morbidity in Ohtahara Syndrome: A Case Report Emphasizing Integrated Airway and Seizure Care in a Resource-Limited Setting.Case reports in pediatrics · 2026Article
- The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.BMC medicine · 2025Article
- Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis.Molecular syndromology · 2025Article
- Type 1 early infantile epileptic encephalopathy: A case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.Molecular genetics & genomic medicine · 2023Article
- Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy.Acta epileptologica · 2023Review
- Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.BMC medical genomics · 2023Article
- Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.European journal of human genetics : EJHG · 2023Article
- CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male.Children (Basel, Switzerland) · 2022Article
- Case report: NovelFrontiers in pediatrics · 2022Article
- Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.Journal of epilepsy research · 2021Article
- Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.Frontiers in neurology · 2021Review
- Treatment for the Benign Childhood Epilepsy With Centrotemporal Spikes: A Monocentric Study.Frontiers in neurology · 2021Article
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- Article
- The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.European journal of human genetics : EJHG · 2019Article
- Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.Frontiers in neuroscience · 2019Article
- Vaccination Status of Children With Epilepsy or Cerebral Palsy in Hunan Rural Area and a Relative KAP Survey of Vaccinators.Frontiers in pediatrics · 2019Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify potential pathogenic variants of 308 genes in 68 Han Chinese patients with unexplained EIEE. A filter process was performed to prioritize rare variants of potential functional significance. In all cases where parental testing was accessible, Sanger sequencing confirmed the variants and determined the parental origin. In 15% of patients (n = 10/68), we identified nine de novo pathogenic variants, and one assumed de novo pathogenic variant in the following genes: CDKL5 (n = 2), STXBP1 (n = 2), SCN1A (n = 3), KCNQ2 (n = 2), SCN8A (n = 1), four of the variants are novel variants. In 4% patients (n = 3/68), we identified three likely pathogenic variants; two assumed de novo and one X-linked in the following genes: SCN1A (n = 2) and ARX (n = 1), two of these variants are novel. Variants were assumed de novo when parental testing was not available. Our findings were first reported in Han Chinese patients with unexplained EIEE, enriching the EIEE mutation spectrum bank.
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