Epileptic lesions due to malformation of cortical development

Hiroki Nariai MD (Dr. Nariai of the David Geffen School of Medicine at UCLA has no relevant financial relationships to disclose.)
Aria Fallah MD (Dr. Fallah of the David Geffen School of Medicine at UCLA has no relevant financial relationships to disclose.)
Raman Sankar MD PhD (Dr. Sankar of the University of California, Los Angeles has received honorariums from BioMarin, Eisai, Lundbeck, Sun Pharma, Sunovion, and UCB for speaking engagements and advisory meetings.)
Jerome Engel Jr MD PhD, editor. (Dr. Engel of the David Geffen School of Medicine at the University of California, Los Angeles, has no relevant financial relationships to disclose.)
Originally released May 1, 2017; expires May 1, 2020

Overview

Malformation of cortical development, including focal cortical dysplasia, tuberous sclerosis complex, and hemimegalencephaly is a common cause of epilepsy. The authors of this article review the most recent advances in understanding of their pathophysiology and cumulative evidence of clinical studies regarding clinical manifestations, diagnosis, and treatment.

Key points

 

• Malformation of cortical development is the most common cause of pharmacoresistant epilepsy, especially in children.

 

• Malformation of cortical development, including focal cortical dysplasia, tuberous sclerosis complex, and hemimegalencephaly share the similar derangement of biological pathways, such as the mTOR pathway.

 

• Surgical treatment is the mainstay of curative therapy for focal cortical dysplasia, yet disease-modifying medical therapy based on the specific pathophysiology is under investigation.

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