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J Neurosci Methods. 2016 Feb 15;260:73-82. doi: 10.1016/j.jneumeth.2015.04.007. Epub 2015 Apr 21.

Genetic animal models of malformations of cortical development and epilepsy.

Author information

  • 1Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: wong_m@wustl.edu.
  • 2Department of Neurosurgery, University of Florida, Gainesville, FL 32610, USA.

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.

KEYWORDS:

Focal cortical dysplasia; Heterotopia; Lissencephaly; Mice; Seizure; Tuberous sclerosis

PMID:
25911067
PMCID:
PMC4618289
DOI:
10.1016/j.jneumeth.2015.04.007
[PubMed - indexed for MEDLINE]
Free PMC Article
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