目的:自限婴儿癫痫(SeLIE)具有独特的临床特征,和PRRT2基因已知是一个相当大的遗传原因。只有一些关于PRRT2阳性SeLIE的研究,和抗癫痫药物通常需要由于频繁发作在最初的癫痫发作。本研究旨在为早期识别PRRT2阳性SeLIE患者提供临床信息,并提出有效的抗癫痫药物来控制癫痫发作。
方法:我们回顾性分析了36例确诊为SeLIE的PRRT2基因致病变异的患者。此外,纳入了6例新生儿发作性癫痫发作和3岁后持续发作的非典型病例,以了解PRRT2相关癫痫的扩大的临床范围.我们分析了最初的演讲,临床课程,和癫痫控制对抗癫痫药物的反应。
结果:PRRT2相关癫痫患者在初次就诊时具有特征性的癫痫发作符号,包括所有的发热,集群(n=23,63.9%),短期(n=33,91.7%),和双侧强直阵挛性癫痫发作(n=26,72.2%)。遗传分析显示,c。649dupC是最常见的变异,6例患者存在含有PRRT2基因的16p11.2微缺失。三分之一的患者是散发性病例,没有癫痫或阵发性运动障碍的家族史。在接受抗癫痫药物治疗的33名患者中,钠通道阻滞剂,比如卡马西平,是控制癫痫发作最有效的.
结论:我们的结果描绘了PRRT2阳性SeLIE的临床特征,将其与其他遗传性婴儿癫痫患者区分开来,并发现了用于初始聚集性癫痫发作控制的有效抗癫痫药物。如果在正常发育的婴儿中出现无脑双侧强直-阵挛性癫痫发作,PRRT2阳性SeLIE应被视为可能的诊断,钠通道阻滞剂应作为控制癫痫发作的首选药物。
Self-limited infantile epilepsy (SeLIE) has distinctive clinical features, and the PRRT2 gene is known to be a considerable genetic cause. There have been a few studies on PRRT2-positive SeLIE only, and anti-seizure medications are often required due to frequent seizures at initial seizure onset. This study aimed to provide clinical information for the early recognition of patients with PRRT2-positive SeLIE and to propose effective anti-seizure medications for seizure control.
We retrospectively reviewed 36 patients diagnosed with SeLIE with genetically confirmed pathogenic variants of PRRT2. In addition, six atypical cases with neonatal-onset seizures and unremitting after 3 years of age were included to understand the expanded clinical spectrum of PRRT2-related epilepsy. We analyzed the initial presentation, clinical course, and seizure control response to anti-seizure medications.
Patients with PRRT2-related epilepsy had characteristic seizure semiology at the initial presentation, including all afebrile, clustered (n = 23, 63.9%), short-duration (n = 33, 91.7%), and bilateral tonic-clonic seizures (n = 26, 72.2%). Genetic analysis revealed that c. 649dupC was the most common variant, and six patients had a 16p11.2 microdeletion containing the PRRT2 gene. One-third of the patients were sporadic cases without a family history of epilepsy or paroxysmal movement disorders. In the 33 patients treated with anti-seizure medications, sodium channel blockers, such as carbamazepine, were the most effective in seizure control.
Our results delineated the clinical characteristics of PRRT2-positive SeLIE, differentiating it from other genetic infantile epilepsies and discovered the effective anti-seizure medications for initial clustered seizure control. If afebrile bilateral tonic-clonic seizures develop in a normally developed infant as a clustered pattern, PRRT2-positive SeLIE should be considered as a possible diagnosis, and sodium channel blockers should be administered as the first medication for seizure control.