ArticleEuropean journal of human genetics : EJHG2011
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 82 citations in OpenAlex.
- Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Human genetics · 2015Trial
- A novel mutation in the KLHL17 gene is associated with neurodevelopmental disorders.Genes & diseases · 2025Article
- Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.Developmental medicine and child neurology · 2025Article
- Efficacy and tolerability of celastrol and edaravone in the multiple-hit rat model of infantile spasms.Epilepsy & behavior : E&B · 2025Article
- Association between maternal usage of volatile organic compounds and West syndrome, the Japan Environment and Children's study.Scientific reports · 2024Article
- Autism-related KLHL17 and SYNPO act in concert to control activity-dependent dendritic spine enlargement and the spine apparatus.PLoS biology · 2023Article
- Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.Journal of personalized medicine · 2022Article
- KLHL17/Actinfilin, a brain-specific gene associated with infantile spasms and autism, regulates dendritic spine enlargement.Journal of biomedical science · 2020Article
- Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics.Experimental cell research · 2020Review
- Review
- Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.Journal of medical genetics · 2018Article
- Epileptogenesis in neonatal brain.Seminars in fetal & neonatal medicine · 2018Review
- Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.PloS one · 2018Observational
- A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.Frontiers in genetics · 2018Review
- Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.Pediatrics · 2017Article
- Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.Epilepsia open · 2017Article
- Inflammation in Epileptic Encephalopathies.Advances in protein chemistry and structural biology · 2017Review
- Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.JIMD reports · 2017Article
- Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.The Journal of pediatrics · 2016Article
- De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.American journal of human genetics · 2016Article
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Authors and funding
19 authors at 11 institutions in 3 countries.
Funding
Abstract
Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development. Second, genes in pathways of synaptic function were overrepresented, significantly those involved in synaptic vesicle transport. Evidence also suggested roles for GABAergic synapses and the postsynaptic density. Third, we confirm the association of ISS with duplication of 14q12 and maternally inherited duplication of 15q11q13, and report the association with duplication of 21q21. We also present a patient with ISS and deletion 7q11.3 not involving MAGI2. Finally, we provide evidence that ISS in deletion 1p36 may be associated with deletion of KLHL17 and expand the epilepsy phenotype in that syndrome to include early infantile epileptic encephalopathy. Several of the identified pathways share functional links, and abnormalities of forebrain synaptic growth and function may form a common biologic mechanism underlying both ISS and autism. This study demonstrates a novel approach to the study of gene content in subjects with ISS and copy number variation, and contributes further evidence to support specific pathways of pathogenesis.
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