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July 2016

Genetic Gradients in Epileptic Brain Malformations

Author Affiliations
  • 1Department of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center at Dallas
  • 2Department of Pediatrics, The University of Texas Southwestern Medical Center at Dallas
JAMA Neurol. 2016;73(7):787. doi:10.1001/jamaneurol.2016.1039

Epilepsies caused by mutation of unexcitable, non–ion channel gene products constitute an important and active area of investigation. Genes involved in virtually all kinds of intracellular processes have been linked to abnormalities in neural membrane excitability and epilepsy. Among these, the MTOR gene is a prominent example. Mammalian target of rapamycin (mTOR) is a serine/threonine protein kinase that acts via the formation of 2 distinct complexes, regulating cell growth and proliferation, motility, survival, protein synthesis, autophagy, and transcription. Abnormalities in MTOR and MTOR-interacting proteins are conspicuously found in clinical syndromes characterized by abnormal cell number and growth, including the cells that conform neural structures. In particular, MTOR has been associated with several types of brain malformation and with focal epilepsy.1

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