Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
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DOI：
10.1038/s41598-022-06324-2
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发表时间：
2022-02-21
影响因子：
4.6
通讯作者：
Pal DK
中科院分区：
文献类型：
--
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
青少年肌阵挛性癫痫（JME）是一种常见的特发性全身性癫痫，其发作预后和疾病表现存在性别差异。在这里，我们调查的性别，癫痫发作类型和促发剂的综合流行病学，以及它们对预后的影响，在JME，通过横截面数据收集的青少年肌阵挛性癫痫（BIOJUME）财团。765例患者符合严格的JME入选标准（女性：男性，1.8：1）。59%的女性和50%的男性报告了触发性癫痫发作，仅在女性中，这与失神癫痫发作相关（OR = 2.0，p < 0.001）。在单变量分析中，失神发作显著预测了男性（OR = 3.0，p = 0.001）和女性（OR = 3.0，p < 0.001）的耐药性。在女性多变量分析中，月经性癫痫发作（OR = 14.7，p = 0.001）、失神性癫痫发作（OR = 6.0，p < 0.001）和应激诱发性癫痫发作（OR = 5.3，p = 0.02）与耐药性相关，而光阵发性反应预测无癫痫发作（OR = 0.47，p = 0.03）。失神发作和应激相关促发因素的女性构成了JME的预后亚组，与两者都没有的女性（15%）和男性（29%）相比，耐药性的患病率最高（49%），突出了该亚组对有效，有针对性的干预措施的未满足需求。我们提出了一个新的预后分层JME，并建议作为进一步调查的途径，癫痫发作控制电路为基础的风险的作用。
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p < 0.001). Absence seizures significantly predicted drug resistance in both males (OR = 3.0, p = 0.001) and females (OR = 3.0, p < 0.001) in univariate analysis. In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (OR = 6.0, p < 0.001) and stress-precipitated seizures (OR = 5.3, p = 0.02) were associated with drug resistance, while a photoparoxysmal response predicted seizure freedom (OR = 0.47, p = 0.03). Females with both absence seizures and stress-related precipitants constitute the prognostic subgroup in JME with the highest prevalence of drug resistance (49%) compared to females with neither (15%) and males (29%), highlighting the unmet need for effective, targeted interventions for this subgroup. We propose a new prognostic stratification for JME and suggest a role for circuit-based risk of seizure control as an avenue for further investigation.
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影响因子：
34.7
作者：
Arnsten, Amy F. T.
通讯作者：
Arnsten, Amy F. T.
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den Heijer, Jonas M.;Otte, Willem M.;Zijlmans, Maeike
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Pedroso Uchida, Carina Goncalves;de Carvalho, Kelly Cristina;Targas Yacubian, Elza Marcia
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