MTOR pathway in focal cortical dysplasia type 2: What do we know?

Epilepsy Behav. 2018 Aug:85:157-163. doi: 10.1016/j.yebeh.2018.05.014. Epub 2018 Jun 23.

Abstract

Focal cortical dysplasia (FCD) is the most commonly encountered developmental malformation that causes refractory epilepsy. Focal cortical dysplasia type 2 is one of the most usual neuropathological findings in tissues resected therapeutically from patients with drug-resistant epilepsy. Unlike other types of FCD, it is characterized by laminar disorganization and dysplastic neurons, which compromise the organization of the six histologically known layers in the cortex; the morphology and/or cell location can also be altered. A comprehensive review about the pathogenesis of this disease is important because of the necessity to update the results reported over the past years. Here, we present an updated review through Pubmed about the mammalian target of rapamycin (MTOR) pathway in FCD type 2. A wide variety of aspects was covered in 44 articles related to molecular and cellular biology, including experiments in animal and human models. The first publications appeared in 2004, but there is still a lack of studies specifically for one type of FCD. With the advancement of techniques and greater access to molecular and cellular experiments, such as induced pluripotent stem cells (iPSCs) and organoids, it is believed that the trend is increasing the number of publications contributing to the achievement of new discoveries.

Keywords: Drug-resistant epilepsy; Molecular and cellular biology; Pubmed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cerebral Cortex / abnormalities
  • Cerebral Cortex / metabolism*
  • Cerebral Cortex / pathology
  • Drug Resistant Epilepsy / diagnosis
  • Drug Resistant Epilepsy / metabolism
  • Epilepsy / diagnosis*
  • Epilepsy / metabolism*
  • Female
  • Humans
  • Male
  • Malformations of Cortical Development, Group I / diagnosis*
  • Malformations of Cortical Development, Group I / metabolism*
  • Signal Transduction / physiology*
  • TOR Serine-Threonine Kinases / metabolism*

Substances

  • MTOR protein, human
  • TOR Serine-Threonine Kinases

Supplementary concepts

  • Focal cortical dysplasia of Taylor