ArticleJournal of neuropathology and experimental neurology2012
Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.
Article in Journal of neuropathology and experimental neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.Journal of the American Heart Association · 2020Pooled it
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- Focal granule cell bilamination of the dentate gyrus-its prevalence across the human age spectrum and review of the literature.Journal of neuropathology and experimental neurology · 2025Review
- Dentate Gyrus Morphogenesis is Regulated by an Autism Risk Gene Trio Function in Granule Cells.Neuroscience bulletin · 2025Article
- Contribution of the serotonergic system to developmental brain abnormalities in autism spectrum disorder.Autism research : official journal of the International Society for Autism Research · 2024Review
- Intraneuronal accumulation of amyloid-β peptides as the pathomechanism linking autism and its co-morbidities: epilepsy and self-injurious behavior - the hypothesis.Frontiers in molecular neuroscience · 2023Article
- The expansion of newborn neurons in hippocampus improves social recognition deficit in a mouse model of autism.Frontiers in psychiatry · 2023Article
- Molecular and behavioral consequences of Ube3a gene overdosage in mice.JCI insight · 2022Article
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- Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.Brain : a journal of neurology · 2021Article
- Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.JCI insight · 2021Article
- A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.Molecular cytogenetics · 2021Article
- Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.Molecular autism · 2021Article
- Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.Molecular genetics & genomic medicine · 2021Article
- Functional and Neuropathological Evidence for a Role of the Brainstem in Autism.Frontiers in integrative neuroscience · 2021Article
- Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays.Journal of clinical laboratory analysis · 2020Article
- Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models.Psychiatry and clinical neurosciences · 2018Review
- Review: The past, present and future challenges in epilepsy-related and sudden deaths and biobanking.Neuropathology and applied neurobiology · 2018Review
- Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the NaNeurobiology of disease · 2017Article
- Primary olfactory cortex in autism and epilepsy: increased glial cells in autism.Brain pathology (Zurich, Switzerland) · 2017Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 3 countries.
Funding
Abstract
The purposes of this study were to identify differences in patterns of developmental abnormalities between the brains of individuals with autism of unknown etiology and those of individuals with duplications of chromosome 15q11.2-q13 (dup[15]) and autism and to identify alterations that may contribute to seizures and sudden death in the latter. Brains of 9 subjects with dup(15), 10 with idiopathic autism, and 7 controls were examined. In the dup(15) cohort, 7 subjects (78%) had autism, 7 (78%) had seizures, and 6 (67%) had experienced sudden unexplained death. Subjects with dup(15) autism were microcephalic, with mean brain weights 300 g less (1,177 g) than those of subjects with idiopathic autism (1,477 g; p<0.001). Heterotopias in the alveus, CA4, and dentate gyrus and dysplasia in the dentate gyrus were detected in 89% of dup(15) autism cases but in only 10% of idiopathic autism cases (p < 0.001). By contrast, cerebral cortex dysplasia was detected in 50% of subjects with idiopathic autism and in no dup(15) autism cases (p<0.04). The different spectrum and higher prevalence of developmental neuropathologic findings in the dup(15) cohort than in cases with idiopathic autism may contribute to the high risk of early onset of seizures and sudden death.
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Registered trials
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