ArticleJournal of personalized medicine2020
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
Article in Journal of personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.Journal of autism and developmental disorders · 2026Pooled it
- Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.European child & adolescent psychiatry · 2025Pooled it
- O-sialoglycoprotein Endopeptidase (OSGEP) Suppresses Hepatic Ischemia-Reperfusion Injury-Induced Ferroptosis Through Modulating the MEK/ERK Signaling Pathway.Molecular biotechnology · 2025Article
- Clinical characterization of IRF2BPL mutation: Case series and review of the literature.Medicine · 2025Review
- O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells.International journal of molecular sciences · 2024Article
- Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.Annals of clinical and translational neurology · 2024Article
- Review
- Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families.International journal of molecular sciences · 2023Article
- Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.Genes & genomics · 2023Article
- First Report of Mexican Patients withMolecular syndromology · 2023Article
- Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.Human genomics · 2022Article
- Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.Science advances · 2022Article
- Galloway-Mowat Syndrome Type 3 Caused byFrontiers in pediatrics · 2022Article
- Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns.Life (Basel, Switzerland) · 2021Review
- Amplitude Integrated Electroencephalography and Continuous Electroencephalography Monitoring Is Crucial in High-Risk Infants and Their Findings Correlate With Neurodevelopmental Outcomes.Frontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundPediatric epileptic encephalopathy and severe neurological disorders comprise a group of heterogenous diseases. We used whole-exome sequencing (WES) to identify genetic defects in pediatric patients.
methodsPatients with refractory seizures using ≥2 antiepileptic drugs (AEDs) receiving one AED and having neurodevelopmental regression or having severe neurological or neuromuscular disorders with unidentified causes were enrolled, of which 54 patients fulfilled the inclusion criteria, were enrolled, and underwent WES.
resultsGenetic diagnoses were confirmed in 24 patients. In the seizure group,
conclusionsWide genetic variation was identified for severe childhood seizures by WES. WES had a high yield, particularly in male infantile patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.