Biomarkers and Endophenotypes in Juvenile Myoclonic Epilepsy

青少年肌阵挛性癫痫的生物标志物和内表型

• 批准号: 1982227
• 金额: --
• 依托单位: King's College London
• 依托单位国家: 英国
• 项目类别: Studentship
• 财政年份: 2017
• 资助国家: 英国
• 起止时间: 2017 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=studentship-1982227
• 关键词: Biomarkers; Endophenotypes; Juvenile; Myoclonic; Epilepsy

Juvenile Myoclonic Epilepsy (JME) is a common type of epilepsy arising in young people with a complex genetic inheritance. One strategy for improving the power to detect susceptibility genes is to utilise endophenotypes for genetic analysis. Endophenotypes are closer to the biology of the disease and are less subject to misclassification than the overall clinical phenotype. Moreover, quantitative phenotypes offer the opportunity to detect quantitative trait loci (QTLs). In comparison, there are very few biomarkers in human epilepsy- characteristics that indicate normal biological or pathogenic processes - and these may provide tools for improved diagnosis, prognosis and prediction of treatment response. The primary research questions are (a) whether biophysical parameters of the electroencephalograph (EEG) or neuropsychological measures meet the criteria for endophenotypes in JME and (b) whether baseline measures or changes in these EEG parameters have clinical utility as biomarkers. We will test the hypothesis that shift in alpha power spectrum reflects an accurate predictive biomarker of response to treatment in JME.

青少年肌阵挛性癫痫（JME）是一种常见的癫痫类型，发生在具有复杂遗传的年轻人中。提高检测易感基因的能力的一种策略是利用内表型进行遗传分析。内表型更接近疾病的生物学，并且比总体临床表型更少受到错误分类的影响。此外，数量表型提供了检测数量性状基因座（QTL）的机会。相比之下，人类癫痫中的生物标志物很少-表明正常生物学或致病过程的特征-这些可能为改善诊断，预后和预测治疗反应提供工具。主要的研究问题是（a）脑电图（EEG）或神经心理学测量的生物物理参数是否符合JME中内表型的标准，以及（B）这些EEG参数的基线测量或变化是否具有作为生物标志物的临床实用性。我们将检验α功率谱的变化反映JME治疗反应的准确预测生物标志物的假设。

项目成果

Sex-specific disease modifiers in juvenile myoclonic epilepsy.

• DOI: 10.1038/s41598-022-06324-2
• 发表时间: 2022-02-21
• 期刊: Scientific reports
• 影响因子: 4.6
• 作者: Shakeshaft A;Panjwani N;Collingwood A;Crudgington H;Hall A;Andrade DM;Beier CP;Fong CY;Gardella E;Gesche J;Greenberg DA;Hamandi K;Koht J;Lim KS;Møller RS;Ng CC;Orsini A;Rees MI;Rubboli G;Selmer KK;Striano P;Syvertsen M;Thomas RH;Zarubova J;Richardson MP;Strug LJ;Pal DK
• 通讯作者: Pal DK

Trait impulsivity in Juvenile Myoclonic Epilepsy.

• DOI: 10.1002/acn3.51255
• 发表时间: 2021-01
• 期刊: Annals of clinical and translational neurology
• 影响因子: 5.3
• 作者: Shakeshaft A;Panjwani N;McDowall R;Crudgington H;Peña Ceballos J;Andrade DM;Beier CP;Fong CY;Gesche J;Greenberg DA;Hamandi K;Koht J;Lim KS;Orsini A;Rees MI;Rubboli G;Selmer KK;Smith AB;Striano P;Syvertsen M;Talvik I;Thomas RH;Zarubova J;Richardson MP;Strug LJ;Pal DK;BIOJUME Consortium
• 通讯作者: BIOJUME Consortium