Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus
Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus
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DOI：
10.33588/rn.5207.2010693
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发表时间：
2011-04-01
影响因子：
1.2
通讯作者：
Lopez-Marin, Laura
中科院分区：
文献类型：
--
作者：
Cantarin-Extremera, Veronica;Garcia-Penas, Juan J.;Lopez-Marin, Laura
导言。伴有高热惊厥的癫痫患者最常见的突变是电压依赖性钠通道或γ-氨基丁酸受体突变。描述热性惊厥合并癫痫患者的临床、脑电和基因组特征，并与文献中发现的进行比较。我们分析了26例被诊断为癫痫的患者，并进行了有针对性的遗传学研究，目的是收集与流行病学数据、癫痫特征、发育、补充试验、抗癫痫治疗和遗传学研究相关的变量。9名患者表现为全面性癫痫伴发热性癫痫发作，6名患者患有德拉维氏综合征，6名患者患有交界性德拉韦氏综合征，2名患者患有Doose综合征，其中3名患者患有不明原因的部分性癫痫。在62%的病例中观察到遗传障碍。在基因检测阳性的患者中，癫痫的平均发病年龄为13.5个月，年龄较低(有统计学意义)。58%的患者在癫痫发作或发展过程中处于癫痫状态。共有85%的患者服用丙戊酸，58%的患者表现出认知障碍。所有患者均进行补充试验。伴有发热性癫痫发作的癫痫患者构成了一个遗传异质性的群体。错义突变是我们研究中最常见的。虽然很难建立表型和基因的相关性，但缺失的患者表现出典型的或边缘的Draves综合征，而γ-氨基丁酸受体突变的患者发生癫痫的程度较轻。
Introduction. The most frequent mutations in the spectrum of epilepsy with febrile seizures plus are those in the voltage-dependent sodium channels or in the gamma-aminobutyric acid receptors.Aim. To describe the clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus and compare them with those found in the literature.Patients and methods. We analysed 26 patients who had been diagnosed with this condition and had had a targeted genetic study with the aim of collecting variables related to epidemiological data, characteristics of the epilepsy, development, complementary tests, antiepileptic treatments and genetic study.Results. Nine patients presented generalised epilepsy with febrile seizures plus; six had Dravet's syndrome; six had borderline Dravet's syndrome; two had Doose's syndrome; and three of them had cryptogenic partial epilepsy. Genetic disorders were observed in 62% of the cases. The mean age of onset of epilepsy was 13.5 months and the age was lower (with statistically significant differences) in patients with positive genetic testing. Epileptic status was suffered by 58% of cases either at onset or in the development of the epilepsy. A total of 85% of cases were taking valproic acid and 58% displayed cognitive impairment. Complementary tests were performed in all the patients.Conclusions. Epilepsies with febrile seizures plus make up a genetically heterogeneous group. Missense mutations were the most common in our study. Although it is difficult to establish phenotype-genotype correlations, patients with deletions showed typical or borderline Dravet's syndrome, whereas mutations in the gamma-aminobutyric acid receptor had less severe epilepsy.