ReviewJournal of neuroscience methods2016
Genetic animal models of malformations of cortical development and epilepsy.
Review in Journal of neuroscience methods, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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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
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Rapamycin and rapalogs for tuberous sclerosis complex.The Cochrane database of systematic reviews · 2023Pooled it
- Neocortical and cerebellar malformations affect flurothyl-induced seizures in female C57BL/6J mice.Frontiers in neuroscience · 2023Article
- Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.Frontiers in molecular neuroscience · 2022Review
- Phenotypic analysis of catastrophic childhood epilepsy genes.Communications biology · 2021Article
- RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.PLoS biology · 2021Article
- Circuit Mechanisms Underlying Epileptogenesis in a Mouse Model of Focal Cortical Malformation.Current biology : CB · 2021Article
- Proteomic differences in the hippocampus and cortex of epilepsy brain tissue.Brain communications · 2021Article
- Early developmental electroencephalography abnormalities, neonatal seizures, and induced spasms in a mouse model of tuberous sclerosis complex.Epilepsia · 2020Article
- TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.Nature communications · 2019Article
- mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Cortical Malformations: Lessons in Human Brain Development.Frontiers in cellular neuroscience · 2019Review
- Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model.Disease models & mechanisms · 2018Article
- A novel brain tumour model in zebrafish reveals the role of YAP activation in MAPK- and PI3K-induced malignant growth.Disease models & mechanisms · 2017Article
- Early rescue of interneuron disease trajectory in developmental epilepsies.Current opinion in neurobiology · 2016Review
- Utilizing Animal Models of Infantile Spasms.Epilepsy currentsArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis.
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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.