TY - JOUR
PY - 2017//
TI - Genetic biomarkers of posttraumatic epilepsy: a systematic review
JO - Seizure
A1 - Cotter, Devyn
A1 - Kelso, Andrew
A1 - Neligan, Aidan
SP - 53
EP - 58
VL - 46
IS -
N2 - 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.
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.
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).
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.
Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved. Language: en
LA - en
SN - 1059-1311
UR - http://dx.doi.org/10.1016/j.seizure.2017.02.002
ID - ref1
ER -