Genetic animal models of malformations of cortical development and epilepsy

Michael Wong, Steven N. Roper

Research output: Contribution to journalReview articlepeer-review

22 Scopus citations

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.

Original languageEnglish
Pages (from-to)73-82
Number of pages10
JournalJournal of Neuroscience Methods
Volume260
DOIs
StatePublished - Feb 15 2016

Keywords

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

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