ArticleActa neuropathologica2020
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Article in Acta neuropathologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 38 citations in OpenAlex.
- Diverse Genetic Etiologies of Unilateral Polymicrogyria.Annals of neurology · 2026Article
- Paired blood and brain tissue methylation biomarkers in focal cortical dysplasia.Brain communications · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.Neurology. Genetics · 2024Article
- Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy.bioRxiv : the preprint server for biology · 2024Article
- Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.Nature genetics · 2023Article
- The specific DNA methylation landscape in focal cortical dysplasia ILAE type 3D.Acta neuropathologica communications · 2023Article
- Technological and computational approaches to detect somatic mosaicism in epilepsy.Neurobiology of disease · 2023Review
- Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes.Acta neuropathologica · 2023Article
- The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.Brain : a journal of neurology · 2023Article
- Neurodevelopmental disorders: 2023 update.Free neuropathology · 2023Article
- Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.Brain : a journal of neurology · 2022Article
- Article
- Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders.Nature reviews. Neuroscience · 2022Review
- Eukaryotic translation initiation factor 4E binding protein 1 (EIF4EBP1) expression in glioblastoma is driven by ETS1- and MYBL2-dependent transcriptional activation.Cell death discovery · 2022Article
- Editorial: Psychiatric Comorbidities in the Epilepsies: Extensive Mechanisms and Broad Questions.Frontiers in integrative neuroscience · 2022Article
- DNA methylation-based classification of malformations of cortical development in the human brain.Acta neuropathologica · 2022Article
- Histopathologic features of nasal glial heterotopia (nasal glioma).Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
- Article
- Molecular diagnostics in drug-resistant focal epilepsy define new disease entities.Brain pathology (Zurich, Switzerland) · 2021Review
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Authors and funding
19 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polymicrogyria (PMG) is a developmental cortical malformation characterized by an excess of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates with seizures. The molecular pathomechanisms underlying PMG development are not yet understood. About 40 genes have been associated with PMG, and small copy number variations have also been described in selected patients. We recently provided evidence that epilepsy-associated structural brain lesions can be classified based on genomic DNA methylation patterns. Here, we analyzed 26 PMG patients employing array-based DNA methylation profiling on formalin-fixed paraffin-embedded material. A series of 62 well-characterized non-PMG cortical malformations (focal cortical dysplasia type 2a/b and hemimegalencephaly), temporal lobe epilepsy, and non-epilepsy autopsy controls was used as reference cohort. Unsupervised dimensionality reduction and hierarchical cluster analysis of DNA methylation profiles showed that PMG formed a distinct DNA methylation class. Copy number profiling from DNA methylation data identified a uniform duplication spanning the entire long arm of chromosome 1 in 7 out of 26 PMG patients, which was verified by additional fluorescence in situ hybridization analysis. In respective cases, about 50% of nuclei in the center of the PMG lesion were 1q triploid. No chromosomal imbalance was seen in adjacent, architecturally normal-appearing tissue indicating mosaicism. Clinically, PMG 1q patients presented with a unilateral frontal or hemispheric PMG without hemimegalencephaly, a severe form of intractable epilepsy with seizure onset in the first months of life, and severe developmental delay. Our results show that PMG can be classified among other structural brain lesions according to their DNA methylation profile. One subset of PMG with distinct clinical features exhibits a duplication of chromosomal arm 1q.
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