To evaluate the clinical predictors of positive genetic investigation in developmental and epileptic encephalopathies, beyond the influence of Dravet Syndrome. The study included 98 patients diagnosed with developmental and epileptic encephalopathies. The patients underwent Sanger sequencing of , Chromosomal Microarray Analysis, and Whole Exome Sequencing. The association of clinical variables with a positive genetic test was investigated using univariate and multivariate analysis. Genetic diagnosis was identified in 47 (48 %) patients with developmental and epileptic encephalopathies. Beyond Dravet Syndrome influence, first seizure in the context of fever (p < 0.01), seizures precipitated by temperature (p = 0.04), cognitive regression (p = 0.04), hypotonia (p < 0.01), and focal seizures (p = 0.03) increased the chances of a positive genetic investigation. In contrast, atonic seizures (p = 0.01) and generalized discharges on electroencephalogram (p = 0.02) decreased the chances. Dravet Syndrome was positively associated with a genetic developmental and epileptic encephalopathies etiology (p < 0.01), whereas epilepsy with myoclonic-atonic seizures (p = 0.01), developmental and epileptic encephalopathies with spike-wave activation in sleep (p = 0.04), and Lennox-Gastaut syndrome (p = 0.03) were negatively associated. In multivariate analysis, the first seizure in the context of fever (p < 0.01) and hypotonia (p = 0.02) were positively, and atonic seizures (p = 0.01) were negatively and independently associated with a genetic etiology.

中文翻译：

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发育性脑病和癫痫性脑病个体基因诊断的预测因子

评估发育性脑病和癫痫性脑病的阳性基因检查的临床预测因子，排除 Dravet 综合征的影响。该研究纳入了 98 名被诊断患有发育性脑病和癫痫性脑病的患者。患者接受了桑格测序、染色体微阵列分析和全外显子组测序。使用单变量和多变量分析研究临床变量与阳性基因检测的关联。 47 名（48%）患有发育性脑病和癫痫性脑病的患者得到了基因诊断。除 Dravet 综合征影响外，发烧时首次癫痫发作 (p < 0.01)、温度诱发癫痫发作 (p = 0.04)、认知衰退 (p = 0.04)、肌张力低下 (p < 0.01) 和局灶性癫痫发作 (p = 0.03) ）增加了积极基因调查的机会。相比之下，失张力发作 (p = 0.01) 和脑电图全面放电 (p = 0.02) 会降低这种机会。 Dravet 综合征与遗传性发育性脑病和癫痫性脑病病因呈正相关 (p < 0.01)，而癫痫伴肌阵挛失张力性癫痫发作 (p = 0.01)、睡眠时伴有棘波激活的发育性脑病和癫痫性脑病 (p = 0.04)，以及Lennox-Gastaut 综合征 (p = 0.03) 呈负相关。在多变量分析中，发烧（p < 0.01）和肌张力低下（p = 0.02）背景下的首次癫痫发作与遗传病因呈正相关，失张力癫痫发作（p = 0.01）与遗传病因呈负相关且独立相关。