Aydin-Özemir Zeynep, Matur Zeliha, Bebek Nerses, Gürses Candan, Gökyiğit Ayşen, Baykan Betül
Istanbul University Epilepsy Center (EPIMER) and Istanbul Faculty of Medicine, Department of Neurology, Clinical Neurophysiology Unit, Turkey; Memorial Ataşehir Hospital, Department of Neurology, Turkey.
Istanbul University Epilepsy Center (EPIMER) and Istanbul Faculty of Medicine, Department of Neurology, Clinical Neurophysiology Unit, Turkey; Istanbul Bilim University, Faculty of Medicine, Department of Neurology, Turkey.
Seizure. 2014 Sep;23(8):607-15. doi: 10.1016/j.seizure.2014.04.017. Epub 2014 May 15.
Generalized paroxysmal fast activity (GPFA), an EEG pattern with variable frequency and duration, is usually noted in symptomatic/cryptogenic generalized epilepsies. However, GPFA has also been reported in a few patients with genetic generalized epilepsy (GGE) who presented with typical absence seizures (TAS). Our aim was to report the results of long-term follow-up and genetic findings in these patients.
We investigated all EEGs of adult GGE patients with TAS, and identified 12 patients with GPFA (8.3% of adult GGE patients with TAS). Ten of these patients were available for long-term follow up. Their clinical and electroencephalographic courses and genetic features were investigated. The control group was composed of 24 adult GGE patients who also had TAS, but lacking GPFA with a similar follow-up duration in the same epilepsy center.
The mean age at GPFA detection was 33±16.6 (16-71 years) and 80% still had GPFA in their last EEG. The duration of epilepsy and persistence of TAS were both significantly longer in the GPFA group despite a similar follow-up duration. Sixty percent of the GPFA group had consanguineous parents, whereas this rate was only 4.17% in the control group. Seven relatives of the GPFA group also had epilepsy. We could not show any known mutations in two families. At the end of the follow-up, none of the patients with GPFA was dependent in self-care, despite continuing seizures.
Our study shows that GPFA is an ignored EEG pattern of adult GGE patients with TAS, indicating a long and non-remitting course in almost all of the patients.
广泛性阵发性快速活动（GPFA）是一种脑电图模式，频率和持续时间可变，通常在症状性/隐源性全身性癫痫中出现。然而，在一些表现为典型失神发作（TAS）的遗传性全身性癫痫（GGE）患者中也有GPFA的报道。我们的目的是报告这些患者的长期随访结果和基因研究结果。
我们调查了所有患有TAS的成年GGE患者的脑电图，确定了12例有GPFA的患者（占患有TAS的成年GGE患者的8.3%）。其中10例患者可进行长期随访。对他们的临床、脑电图病程及基因特征进行了研究。对照组由24例同样患有TAS但无GPFA的成年GGE患者组成，在同一癫痫中心进行了类似时长的随访。
检测到GPFA时的平均年龄为33±16.6岁（16 - 71岁），80%的患者在最后一次脑电图检查时仍有GPFA。尽管随访时长相似，但GPFA组的癫痫持续时间和TAS持续时间均显著更长。GPFA组60%的患者父母为近亲结婚，而对照组这一比例仅为4.17%。GPFA组的7名亲属也患有癫痫。我们在两个家族中未发现任何已知突变。随访结束时，尽管仍有发作，但所有有GPFA的患者在自我护理方面均无需依赖他人。
我们的研究表明，GPFA是患有TAS的成年GGE患者中一种被忽视的脑电图模式，几乎所有患者病程漫长且持续不缓解。
