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Lissencephaly (LIS, smooth brain) comprises a group of severe brain malformations associated with deficient neuronal migration that results in mental retardation, epilepsy and when severe a shortened lifespan (1– 3).
These mice develop many of the brain malformations associated with severe forms of dystroglycanopathy, including disruption of the basement membrane and aberrant neuronal migration in the cerebrum and cerebellum [ 4, 40, 41].
Interestingly, Kunisaki and coworkers [ 10] also found that the lack of PSR caused repression of apoptosis in several tissues, including the foetal liver and thymus, whereas Li and colleagues [ 8] observed hyperplastic brain malformations associated with an increased number of noningested apoptotic bodies in a small proportion of PSR-deficient mice (~15%).
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A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
These models can serve as diagnostic and predictive tools to explain human brain development and malformations associated with neurological disorders such as lissencephaly, polymicrogyria, schizophrenia, and autism.
Brain-selective deletion of dystroglycan does not affect overall cerebellar growth, yet causes malformations associated with glia limitans disruptions and granule cell heterotopia that recapitulate phenotypes found in dystroglycanopathy patients.
Both studies found malformations associated with microcephaly, including what's known as cortical thinning and smaller brains.
As of July 28, the World Health Organization reports that nearly 2,000 babies worldwide are affected with microcephaly or central nervous system malformations associated with Zika.
Several malformations associated with ice crystal formation inside the embryos were detected.
Patients with Doublecortin (DCX) mutations have severe cortical malformations associated with mental retardation and epilepsy.
†Excluding malformations associated with valproic acid exposure.
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