Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Department of Pediatrics, Chonnam National University Medical School, Gwangju, South Korea.
Epilepsia Open. 2023 Jun;8(2):436-443. doi: 10.1002/epi4.12708. Epub 2023 Feb 20.
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.
自限性婴儿癫痫（SeLIE）具有独特的临床特征，已知 PRRT2 基因是一个相当大的遗传病因。仅有少数研究针对 PRRT2 阳性 SeLIE，由于初始发作时频繁发作，通常需要抗癫痫药物。本研究旨在为早期识别 PRRT2 阳性 SeLIE 患者提供临床信息，并提出有效控制癫痫发作的抗癫痫药物。
我们回顾性分析了 36 例经基因证实 PRRT2 致病性变异的 SeLIE 患者。此外，还纳入了 6 例新生儿起病的癫痫发作且 3 岁后仍未缓解的非典型病例，以了解 PRRT2 相关癫痫的扩展临床谱。我们分析了初始表现、临床病程和抗癫痫药物的控制反应。
PRRT2 相关癫痫患者在初始表现时具有特征性的癫痫发作症状，包括所有无热、成簇性（n=23，63.9%）、短时间（n=33，91.7%）和双侧强直阵挛性发作（n=26，72.2%）。基因分析显示，c.649dupC 是最常见的变异，6 例患者存在包含 PRRT2 基因的 16p11.2 微缺失。三分之一的患者为散发性病例，无癫痫或阵发性运动障碍家族史。在接受抗癫痫药物治疗的 33 例患者中，钠通道阻滞剂，如卡马西平，在控制癫痫发作方面最有效。
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区分开来，并发现了控制初始成簇性癫痫发作的有效抗癫痫药物。如果正常发育的婴儿出现无热双侧强直阵挛性发作呈簇状模式，应考虑 PRRT2 阳性 SeLIE 作为可能的诊断，应给予钠通道阻滞剂作为控制癫痫发作的首选药物。
