Pathogenetic mechanisms of focal cortical dysplasia
Open accessAbstract
Focal cortical dysplasias (FCDs) constitute a prevalent cause of intractable epilepsy in children, and is one of the leading conditions requiring epilepsy surgery. Despite recent advances in the cellular and molecular biology of these conditions, the pathogenetic mechanisms of FCDs remain largely unknown. The purpose if this work is to review the molecular underpinnings of FCDs and to highlight potential therapeutic targets. A systematic review of the literature regarding the histologic, molecular, and electrophysiologic aspects of FCDs was conducted. Disruption of the mammalian target of rapamycin (mTOR) signaling comprises a common pathway underlying the structural and electrical disturbances of some FCDs. Other mechanisms such as viral infections, prematurity, head trauma, and brain tumors are also posited. mTOR inhibitors (i.e., rapamycin) have shown positive results on seizure management in animal models and in a small cohort of patients with FCD. Encouraging progress has been achieved on the molecular and electrophysiologic basis of constitutive cells in the dysplastic tissue. Despite the promising results of mTOR inhibitors, large-scale randomized trials are in need to evaluate their efficacy and side effects, along with additional mechanistic studies for the development of novel, molecular-based diagnostic and therapeutic approaches.
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Certain neurodevelopmental diseases are caused by de novo somatic mutations in neural progenitors that expand clonally to produce aberrations in specific neural cell types and brain regions.
“For example, these studies have demonstrated that certain neurodevelopmental diseases are caused by de novo somatic mutations in neural progenitors that then expand clonally to produce aberrations in specific neural cell types and brain regions (Cai et al., 2015; Hu et al., 2014; Marin-Valencia et al., 2014).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Marin-Valencia et al., 2014
Recent advances in next generation sequencing and single cell genomics have enabled detection of somatic genomic variations in specific cells and healthy and diseased human brains.
“Recent advances in next generation sequencing and single cell genomics have enabled the detection of somatic genomic variations in specific cells and healthy and diseased human brains (Cai et al., 2015; Hu et al., 2014; Marin-Valencia et al., 2014).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Marin-Valencia et al., 2014
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Resective Surgery for Medication-Resistant Epilepsy
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Ablative Surgery for Medication-Resistant Epilepsy
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Diet Therapy for Medication-Resistant Epilepsy
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- Authors
- Marin‐Valencia, I., Guerrini, R., & Gleeson, J. G.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Meyer Children's Hospital (IT)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Gleeson, Joseph G.
- Venue
- Epilepsia
- Publisher
- Wiley
- Published
- 2014-05-23
- Volume
- 55
- Issue
- 7
- Pages
- 970-978
- ISSN
- 0013-9580 (ISSN-L)
- 1528-1167
- PMC
- PMC4107035
- OpenAlex
- W2150647089
- Cited by
- 100
- References
- 82
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 5 · 2023: 5 · 2022: 2 · 2021: 6 · 2020: 29 · 2019: 6 · 2018: 13 · 2017: 7 · 2016: 7 · 2015: 12 · 2014: 1
- FWCI
- 1.24
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Epilepsia (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Florence Research (University of Florence) (submittedVersion)
- Funders
- National Institutes of Health (NIH) (P01HD070494, R01NS083823)
- Howard Hughes Medical Institute
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
- Keywords
- focal cortical dysplasia, drug-resistant epilepsy, pediatric epilepsy, mTOR signaling, rapamycin, mTOR inhibitors, epilepsy pathogenesis, viral infection, preterm birth, head trauma, brain tumors, therapeutic target, epileptogenic tissue
- MeSH terms
- Animals, Anticonvulsants, Epilepsy, Humans, Signal Transduction, Drug Delivery Systems, Gene Targeting, Malformations of Cortical Development, TOR Serine-Threonine Kinases
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