Related Experiment Video

Updated: Feb 15, 2026

A Semi-Quantitative Drug Affinity Responsive Target Stability DARTS assay for studying Rapamycin/mTOR interaction
05:28

A Semi-Quantitative Drug Affinity Responsive Target Stability DARTS assay for studying Rapamycin/mTOR interaction

Published on: August 27, 2019

17.7K

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy

E Marsan1, S Baulac1

  • 1Department of Genetics and Cytogenetics, AP-HP, Institut du Cerveau et de la Moelle Epinière (ICM) - Hôpital Pitié-Salpêtrière, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France.

Neuropathology and Applied Neurobiology
|January 24, 2018
PubMed

Insights

Hyperactivation of the mechanistic target of rapamycin (mTOR) pathway is linked to brain malformations like focal cortical dysplasia (FCD). Activating mutations in the MTOR gene are the most common cause identified in FCD brain samples.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • The mechanistic target of rapamycin (mTOR) pathway is crucial for cellular functions including growth, proliferation, and metabolism.
  • Hyperactivation of the mTOR pathway is increasingly recognized as a key feature in malformations of cortical development (MCD), such as focal cortical dysplasia (FCD) and hemimegalencephaly.

Purpose of the Study:

  • To review recent genetic advances in understanding the molecular basis of FCD.
  • To elucidate the genetic etiology behind mTOR hyperactivation in FCD.

Main Methods:

  • Review of current literature on genetic mutations in FCD.
  • Analysis of molecular genetic data from FCD brain specimens.

Main Results:

  • Activating somatic mutations in the MTOR gene are the most frequent genetic findings in FCD brain specimens.
  • These mutations provide a direct link between genetic alterations and mTOR pathway hyperactivation in FCD.

Conclusions:

  • Genetic mutations, particularly in the MTOR gene, are a primary driver of mTOR hyperactivation in FCD.
  • Understanding these genetic underpinnings is essential for future research and potential therapeutic strategies for FCD.
Keywords:
DEPDC5GATOR1focal cortical dysplasiafocal epilepsymTOR pathwaysomatic mutations

More Related Videos

Mechanistic Insight into the Development of TNBS-Mediated Intestinal Fibrosis and Evaluating the Inhibitory Effects of Rapamycin10:21

Mechanistic Insight into the Development of TNBS-Mediated Intestinal Fibrosis and Evaluating the Inhibitory Effects of Rapamycin

Published on: September 12, 2019

7.8K
Robotic-Guided Stereoelectroencephalography for Invasive Epilepsy Monitoring11:28

Robotic-Guided Stereoelectroencephalography for Invasive Epilepsy Monitoring

Published on: June 13, 2025

1.4K

Related Concept Videos

PI3K/mTOR/AKT Signaling Pathway01:22

PI3K/mTOR/AKT Signaling Pathway

The mammalian target of rapamycin  (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1  (mTORC1) and mTOR complex 2  (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast,  mTORC2 consists of a...
5.7K
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
4.9K
Review and Preview01:10

Review and Preview

In statistics, several tools are used to interpret the data. Measures of central tendency represent the characteristics of the data, such as mean, median, and mode. Additionally, measures of variance like standard deviation and range are used to find the spread of data from the mean. Relative standing measures the distance between data locations. Commonly used measures of relative standings are percentile, z score, and quartiles.
Percentiles are a type of fractile that partition data into...
8.4K
Review and Preview01:13

Review and Preview

Data are individual items of information obtained from a population or sample. Data may be classified as qualitative (categorical), quantitative continuous, or quantitative discrete. Because it is not practical to measure the entire population in a study, researchers use samples to represent the population. A random sample is a representative group from the population chosen by using a method that gives each individual in the population an equal chance of being included in the sample. Random...
11.6K
C4 Pathway and CAM01:27

C4 Pathway and CAM

Most plants use the C3 pathway for carbon fixation. However, some plants, such as sugar cane, corn, and cacti that grow in hot conditions, use alternative pathways to fix carbon and conserve energy loss due to photorespiration. Photorespiration is the process that occurs when the oxygen concentration is high. Under such conditions, the rubisco enzyme in the Calvin cycle binds O2 instead of CO2, which halts photosynthesis and consumes energy.
C4 Pathway
The C4 pathway is used by plants such as...
49.4K
Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
1.4K