ArticleNeurology. Genetics2016
Analysis of rare copy number variation in absence epilepsies.
Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.Translational pediatrics · 2025Article
- Research progress of connexins in epileptogensis.Acta epileptologica · 2025Review
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communications · 2023Article
- Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.BMC medical genomics · 2023Article
- Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Advanced genetics (Hoboken, N.J.) · 2023Article
- Assessment of burden and segregation profiles of CNVs in patients with epilepsy.Annals of clinical and translational neurology · 2022Article
- Screening for Copy Number Variations of the 15q13.3 Hotspot inCurrent issues in molecular biology · 2021Article
- Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.Neuromolecular medicine · 2021Review
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.Brain : a journal of neurology · 2020Article
- VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.Scientific reports · 2019Article
- 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
- Functional Genomics of Epilepsy and Associated Neurodevelopmental Disorders Using Simple Animal Models: From Genes, Molecules to Brain Networks.Frontiers in cellular neuroscience · 2019Review
- Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.Journal of medical genetics · 2018Article
- Global characterization of copy number variants in epilepsy patients from whole genome sequencing.PLoS genetics · 2018Article
- Article
- Perspective: DNA Copy Number Variations in Cardiovascular Diseases.Epigenetics insights · 2018Review
- Article
- Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Frontiers in genetics · 2018Review
- Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.JAMA neurology · 2017Article
- Copy number variants in absence epilepsy: Further complications of the picture.Neurology. Genetics · 2016Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence seizure generation and potentially a diagnostic continuum.
methodsWe used high-density single-nucleotide polymorphism arrays to analyze genome-wide rare copy number variation (CNV) in a cohort of 144 children with AEs (95 CAE, 26 UAE, and 23 JAE).
resultsWe identified CNVs that are known risk factors for AE in 4 patients, including 3x 15q11.2 deletion. We also expanded the phenotype at 4 regions more commonly identified in other neurodevelopmental disorders: 1p36.33 duplication, 1q21.1 deletion, 22q11.2 duplication, and Xp22.31 deletion and duplication. Fifteen patients (10.5%) were found to carry rare CNVs that disrupt genes associated with neuronal development and function (8 CAE, 2 JAE, and 5 UAE). Four categories of protein are each disrupted by several CNVs: (1) synaptic vesicle membrane or vesicle endocytosis, (2) synaptic cell adhesion, (3) synapse organization and motility via actin, and (4) gap junctions. CNVs within these categories are shared across the AE subtypes.
conclusionsOur results have reinforced the complex and heterogeneous nature of the AEs and their potential for shared genetic mechanisms and have highlighted several pathways that may be important in epileptogenesis of absence seizures.
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Registered trials
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