ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed.
- Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.Neuroradiology · 2026Review
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers.Stem cell reports · 2025Article
- Loss of Eml1 alters microtubule-associated protein networks in mouse brain heterotopia.Communications biology · 2025Article
- Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.The Journal of cell biology · 2024Article
- Biomechanical instability of the brain-CSF interface in hydrocephalus.Brain : a journal of neurology · 2024Review
- Identification of Candidate Genes for Economically Important Carcass Cutting in Commercial Pigs through GWAS.Animals : an open access journal from MDPI · 2023Article
- A neural stem cell paradigm of pediatric hydrocephalus.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Molecular genetics of human developmental neurocranial anomalies: towards "precision surgery".Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Review
- Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.EMBO reports · 2022Article
- Research models of neurodevelopmental disorders: The right model in the right place.Frontiers in neuroscience · 2022Review
- Genomics of human congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells.Frontiers in neuroscience · 2021Review
- Echinoderm Microtubule Associated Protein Like 1 Is Indispensable for Oocyte Spindle Assembly and Meiotic Progression in Mice.Frontiers in cell and developmental biology · 2021Article
- International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nature reviews. Neurology · 2020Review
- Postnatal Role of the Cytoskeleton in Adult Epileptogenesis.Cerebral cortex communications · 2020Article
- EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging details on three previously published families, and describe two novel unrelated individuals with a homozygous partial EML1 deletion and a homozygous missense variant c.760G>A, p.(Val254Met), respectively. From review of the clinical and imaging data of eight individuals from five families with biallelic EML1 variants, a very consistent imaging phenotype emerges. The clinical syndrome is characterized by mainly neurological features including severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation. Several of its features can be recognized on prenatal imaging especially the abnormaly formed lateral ventricles, hydrocephalus (in half of the cases) and suspicion of a neuronal migration disorder. In conclusion, biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.