Feng Shang, Huang Shaobin, Lin Zhiguo
College of Computer Science and Technology, Harbin Engineering University, Harbin, China.
Department of Neurosurgery, The First Affiliated Hospital of Harbin Medical University, Harbin, China.
Epilepsia Open. 2024 Dec;9(6):2378-2383. doi: 10.1002/epi4.13067. Epub 2024 Oct 30.
Clinical studies indicated a link between DTI imaging characteristics and epilepsy, but the causality of this connection had not been established. Therefore, we employed the Mendelian randomization analysis method to determine the causal relationship between DTI imaging characteristics and epilepsy.
We used Mendelian randomization analysis to identify the causal relationship between brain structure and the risk of epilepsy. GWAS data of DTI phenotypes, focal epilepsy, and genetic generalized epilepsy (GGE) were utilized in the analysis.
Our study found that DTI imaging phenotypes had a causal risk relationship with epilepsy. These phenotypes had a statistical impact on the risk of epilepsy seizures. There were differences in DTI phenotype causality between GGE and focal epilepsy, which were associated with the clinical phenotype differences of the two types of epilepsy.
Our study demonstrated that the diagnosis of subtypes could be assisted by comparing the differences in DTI phenotypes of specific brain regions. This meant that by studying the changes in brain regions before the onset of epilepsy, we might be able to intervene in epilepsy at an earlier stage.
Our study used Mendelian randomization to explore the causal relationship between brain structure, as seen in DTI imaging, and epilepsy. We found that specific DTI phenotypes are linked to an increased risk of epilepsy seizures, with notable differences between genetic generalized epilepsy and focal epilepsy. This suggested that analyzing DTI phenotypes could help in diagnosing and potentially intervening in epilepsy earlier by finding brain changes before seizures begin.
临床研究表明弥散张量成像（DTI）特征与癫痫之间存在联系，但这种关联的因果关系尚未确立。因此，我们采用孟德尔随机化分析方法来确定DTI成像特征与癫痫之间的因果关系。
我们使用孟德尔随机化分析来确定脑结构与癫痫风险之间的因果关系。分析中使用了DTI表型、局灶性癫痫和遗传性全身性癫痫（GGE）的全基因组关联研究（GWAS）数据。
我们的研究发现DTI成像表型与癫痫存在因果风险关系。这些表型对癫痫发作风险有统计学影响。GGE和局灶性癫痫在DTI表型因果关系上存在差异，这与两种癫痫的临床表型差异相关。
我们的研究表明，通过比较特定脑区DTI表型的差异可以辅助癫痫亚型的诊断。这意味着通过研究癫痫发作前脑区的变化，我们或许能够在更早阶段对癫痫进行干预。
我们的研究使用孟德尔随机化来探究DTI成像中所见的脑结构与癫痫之间的因果关系。我们发现特定的DTI表型与癫痫发作风险增加有关，遗传性全身性癫痫和局灶性癫痫之间存在显著差异。这表明分析DTI表型有助于在癫痫发作前发现脑区变化，从而有助于癫痫的诊断并可能在更早阶段进行干预。
