ArticleJournal of medical genetics2016
Mutations in HECW2 are associated with intellectual disability and epilepsy.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2017Pooled it
- Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities.Prenatal diagnosis · 2026Article
- Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.Brain : a journal of neurology · 2026Article
- A Novel Epilepsy Phenotype in a Young Girl With a PathogenicJournal of child neurology · 2025Article
- Genome-Wide Association Studies of Delay Discounting and Impulsive Personality Traits in Children From the Adolescent Behavior and Cognitive Development Study.Genes, brain, and behavior · 2025Article
- Identification of genetic signatures of positive selection in apes linked to life-history trait adaptations.Genes & genomics · 2025Article
- Identification of E3 Ubiquitin Ligase Substrates Using Biotin Ligase-Based Proximity Labeling Approaches.Biomedicines · 2025Review
- Profiling immune cell-related gene features and immunoregulatory ceRNA in ischemic stroke.Molecular biomedicine · 2024Article
- A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.Cerebellum (London, England) · 2023Article
- Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.Biomedicines · 2022Article
- Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.Bioscience reports · 2022Article
- DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders.Patterns (New York, N.Y.) · 2022Article
- The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases in Neurodevelopment and Neurodegeneration.International journal of molecular sciences · 2022Review
- Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy.Biomedicines · 2022Review
- De novo missense variants in FBXO11 alter its protein expression and subcellular localization.Human molecular genetics · 2022Article
- New-Onset Diabetes Presenting With Hyperosmolar Hyperglycemic State in a Lean Adolescent With Atypical Rett Syndrome Using Antipsychotics.Clinical diabetes : a publication of the American Diabetes Association · 2022Article
- Article
- Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.Nature communications · 2021Article
- Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders.Cells · 2021Review
- ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.European journal of human genetics : EJHG · 2021Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundDe novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these conditions.
methodsExome sequencing was performed on 39 patient-parent trios to identify de novo mutations. Clinical significance of de novo mutations in genes was determined using the American College of Medical Genetics and Genomics standard guidelines for interpretation of coding variants. Variants in genes of unknown clinical significance were further analysed in the context of previous trio sequencing efforts in neurodevelopmental disorders.
resultsIn 39 patient-parent trios we identified 29 de novo mutations in coding sequence. Analysis of de novo and inherited variants yielded a molecular diagnosis in 11 families (28.2%). In combination with previously published exome sequencing results in neurodevelopmental disorders, our analysis implicates HECW2 as a novel candidate gene in ID and epilepsy.
conclusionsOur results support the use of exome sequencing as a diagnostic approach for ID and epilepsy, and confirm previous results regarding the importance of de novo mutations in this patient group. The results also highlight the utility of network analysis and comparison to previous large-scale studies as strategies to prioritise candidate genes for further studies. This study adds knowledge to the increasingly growing list of causative and candidate genes in ID and epilepsy and highlights HECW2 as a new candidate gene for neurodevelopmental disorders.
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