ReviewGenetics in medicine : official journal of the American College of Medical Genetics2019
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Trial
- Terfa Safeguards GABAergic Inhibition and Neuronal Excitability in Zebrafish Through a Foxj3-Linked Transcriptional Mechanism.Neuroscience bulletin · 2026Article
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.Pediatric research · 2026Article
- Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies.International journal of molecular sciences · 2026Review
- Article
- Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New HomozygousMolecular syndromology · 2024Article
- Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.Epilepsia open · 2024Article
- Spontaneous Remission of Epileptic Seizures Following Norovirus Infection in a Patient With DNM1 Encephalopathy.Cureus · 2024Article
- 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
- Biallelic structural variations withinLife science alliance · 2023Article
- Scanning mutagenesis of the voltage-gated sodium channel NaCell reports · 2023Article
- Insights from Spatial Measures of Intolerance to Identifying Pathogenic Variants in Developmental and Epileptic Encephalopathies.International journal of molecular sciences · 2023Article
- Loss-of-function variants inJournal of medical genetics · 2022Article
- Detection of Deregulated miRNAs in Childhood Epileptic Encephalopathies.Journal of molecular neuroscience : MN · 2022Article
- Emerging evidence of genotype-phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G.Frontiers in molecular neuroscience · 2022Article
- UNC13B variants associated with partial epilepsy with favourable outcome.Brain : a journal of neurology · 2021Article
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.American journal of human genetics · 2021Article
- DNA Methylation Signature of Epileptic Encephalopathy-Related Pathogenic Genes Encoding Ion Channels in Temporal Lobe Epilepsy.Frontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determining the pathogenic potential of genes in epileptic encephalopathies is critical before evaluating the pathogenicity of variants identified in an individual. We reviewed de novo variants in epileptic encephalopathies, including their genotypes and functional consequences. We then evaluated the pathogenic potential of genes, with the following additional considerations: (1) recurrence of variants in unrelated cases, (2) information of previously defined phenotypes, and (3) data from genetic experimental studies. Genes related to epileptic encephalopathy revealed pathogenicity with distinct functional alterations, i.e., either a gain of function or loss of function in the majority; however, several genes warranted further study to confirm their pathogenic potential. Whether a gene was associated with distinct phenotype, the genotype (or functional alteration)--phenotype correlation, and quantitative correlation between genetic impairment and phenotype severity were suggested to be specific evidence in determining the pathogenic role of genes. Data from epileptic encephalopathy-related genes would be helpful in outlining guidelines for evaluating the pathogenic potential of genes in other genetic disorders.
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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.