Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Epileptic Disord. 2023 Aug;25(4):510-518. doi: 10.1002/epd2.20072. Epub 2023 May 17.
Pathogenic PRRT2 variants cause self-limited (familial) infantile epilepsy (SeLIE), which is responsive to sodium channel blocking antiseizure medications. The interictal EEG is typically normal. We describe a cohort of infants with PRRT2-related SeLIE with striking peri-ictal EEG abnormalities.
We included all infants diagnosed with PRRT2-related SeLIE during July 2020 to November 2021 at the Royal Children's Hospital, Melbourne. Clinical features and results of aetiologic investigations were collected from electronic medical records. All EEGs were reviewed independently by two epileptologists.
Ten infants presented with focal seizures at a median age of 5 months (range: 3-6 months). Eight had a family history of epilepsy, paroxysmal kinesigenic dyskinesia (PKD) or hemiplegic migraine. Seven of the eight infants with an EEG performed within 24 h of the most recent seizure had epileptiform discharges. Their EEGs showed focal sharp waves, spikes, polyspikes or fast activity independently over the left and right temporo-occipital regions. Conversely, the two infants with last known seizure greater than 24 h prior to their EEG had no epileptiform discharges. Oxcarbazepine was commenced in two infants and was effective. Eight infants were initially treated with levetiracetam, and all were subsequently switched to oxcarbazepine due to ongoing seizures or side effects.
Posterior polymorphic focal epileptiform discharges on a peri-ictal EEG recording are a feature of PRRT2-related SeLIE. This finding, particularly in the presence of a family history of infantile epilepsy, PKD or hemiplegic migraine, suggests a diagnosis of PRRT2-related SeLIE and has important treatment implications.
致病性 PRRT2 变异可引起自限性（家族性）婴儿癫痫（SeLIE），其对钠通道阻断抗癫痫药物有反应。发作间期脑电图通常正常。我们描述了一组具有 PRRT2 相关性 SeLIE 的婴儿，其发作期脑电图异常明显。
我们纳入了 2020 年 7 月至 2021 年 11 月期间在墨尔本皇家儿童医院被诊断为 PRRT2 相关性 SeLIE 的所有婴儿。从电子病历中收集病因学研究的临床特征和结果。两名癫痫医生独立审查了所有脑电图。
10 名婴儿在中位年龄为 5 个月（范围：3-6 个月）时出现局灶性发作。8 例有癫痫、阵发性运动诱发性运动障碍（PKD）或偏瘫性偏头痛家族史。在最近一次发作后 24 小时内进行 EEG 检查的 8 例婴儿中，有 7 例存在癫痫样放电。他们的脑电图显示左、右颞枕区有局灶性尖波、棘波、多棘波或快活动。相反，在距离最后一次已知发作大于 24 小时前进行 EEG 的 2 例婴儿中，没有癫痫样放电。2 例婴儿开始使用奥卡西平，效果良好。8 例婴儿最初接受左乙拉西坦治疗，由于持续发作或副作用，所有婴儿随后均换用奥卡西平。
发作期脑电图记录中后部多形性局灶性癫痫样放电是 PRRT2 相关性 SeLIE 的一个特征。这种发现，特别是在婴儿癫痫、PKD 或偏瘫性偏头痛的家族史存在的情况下，提示 PRRT2 相关性 SeLIE 的诊断，并具有重要的治疗意义。
