@article{ref1,
title="Genetic biomarkers of posttraumatic epilepsy: a systematic review",
journal="Seizure",
year="2017",
author="Cotter, Devyn and Kelso, Andrew and Neligan, Aidan",
volume="46",
number="",
pages="53-58",
abstract="INTRODUCTION: Posttraumatic epilepsy (PTE) is caused by traumatic brain injury (TBI) and is an important contributor to the overall social and economic burden of epilepsy. Epidemiological studies suggest that there is a genetic contribution to the development of PTE. Identification of clinically useful genetic biomarkers is important for advancements in diagnosis and treatment of PTE. <br><br>METHODS: A systematic review was performed on the existing literature of genetic biomarkers of posttraumatic epilepsy (PTE). A multi-database search yielded 4 articles deemed suitable for review. Potential genetic biomarkers were identified and critically evaluated. <br><br>RESULTS & DISCUSSION: Biomarkers identified included single nucleotide polymorphism (SNP) rs1143634 of the interkeukin-1β (IL-1β) gene, SNPs rs3828275, rs3791878, and rs769391 of the glutamic acid decarboxylase 1 (GAD1) gene, SNPs rs3766553 and rs10920573 of the adenosine A1 receptor (A1AR) gene, and the functional variant C677T of the methylenetetrahydrofolate reductase (MTHFR) enzyme. The most promising biomarkers identified were IL-1β rs1143634 and A1AR rs10920573. Both had heterogenous at risk genotypes (CT). Those with IL-1β rs1143634 CT genotype developed PTE in 47.7% of cases (p=0.008) and those with A1AR rs10920573 CT genotype developed PTE in 19.2% of cases (p=0.022). <br><br>CONCLUSION: The majority of articles were preliminary with a need for validation of results. There is a need for continued high calibre research in order to validate the currently identified genetic biomarkers as well as to discover new genetic biomarkers in PTE.<br><br>Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.<p /> <p>Language: en</p>",
language="en",
issn="1059-1311",
doi="10.1016/j.seizure.2017.02.002",
url="http://dx.doi.org/10.1016/j.seizure.2017.02.002"
}