目的研究遗传性泛发性癫痫(GGE)患者的泛发性快速活动(GPFA)。
GPFA是症状性全身性癫痫患者的脑电图(EEG)发现,其主要表现为睡眠中的15-25Hz双向占优势的全身性快速活动。从历史上看,GPFA与具有抗药性癫痫和智力障碍的癫痫性脑病有关。然而,GPFA很少被描述为GGE患者的非典型发现,而没有负面预后意义。我们报告了7例GGE和GPFA患者的认知特征和癫痫发作特征。
在范德比尔特动车组和脑电图报告中搜索关键词“特发性全身性癫痫”,“GPFA”和“广义尖峰和波放电(GSWD)”。我们回顾了由此确定的患者的EEG描记和电子病历。癫痫发作类型,频率,神经系统检查,记录临床资料和影像学资料.
在所有患者的脑电图上捕获清醒和睡眠状态。在EEG追踪检查中,确认有6例患者患有GSWD和GPFA;一名患者患有GPFA,但没有GSWD。所有患者认知功能均正常。四个人的脑部MRI正常,一个人的头部CT正常(两个从未成像)。没有患者有强直性癫痫发作。5例患者主要发作类型为全身强直阵挛性发作(GTCS),两人缺席。癫痫发作的年龄为4至24岁。EEG时的平均GTC发作频率为3;两名患者使用两种抗癫痫药(AED)无癫痫发作。
GPFA可能是遗传性全身性癫痫患者的一个未被识别的电描记图发现。尽管GPFA仍然是癫痫性脑病(Lennox-Gastaut综合征)的重要诊断EEG特征,但对于该诊断并不具有特异性。因此,GPFA可以具有可变的表型表达谱。GPFA的发现不一定指示不利的结果。
To study generalized paroxysmal fast activity (GPFA) in patients with genetic generalized epilepsy (GGE).
GPFA is an electroencephalographic (EEG) finding in patients with symptomatic generalized epilepsy consisting of 15-25Hz bifrontally predominant generalized fast activity seen predominantly in sleep. Historically GPFA is linked to epileptic encephalopathy with drug resistant epilepsy and intellectual disability. However, GPFA has been rarely described as an atypical finding in patients with GGE without negative prognostic implication. We report cognitive profile and seizure characteristics in seven patients with GGE and GPFA.
The Vanderbilt EMU and EEG reports were searched for the keywords \"idiopathic generalized epilepsy\", \"GPFA\"and \"generalized spike and wave discharges (GSWD)\". We reviewed the EEG tracings and the electronic medical records of patients thus identified. The seizure type, frequency, neurological work-up, clinical profile and imaging data were recorded.
Awake and sleep states were captured on EEGs of all patients. On EEG tracing review six patients were confirmed to have GSWD and GPFA; one patient had GPFA but no GSWD. All patients had normal cognitive function. Four had a normal brain MRI and one a normal head CT (two were never imaged). None of the patients had tonic seizures. The main seizure type was generalized tonic-clonic seizures (GTCS) in five patients, absence in two. Age at onset of epilepsy ranged from 4 to 24years. The mean GTC seizure frequency at the time of EEG was 3; two patients were seizure free on two antiepileptic drugs (AEDs).
GPFA can be an unrecognized electrographic finding in patients with genetic generalized epilepsy. While GPFA remains an important diagnostic EEG feature for epileptic encephalopathy (Lennox-Gastaut syndrome) it is not specific for this diagnosis. Thus, GPFA may have a spectrum of variable phenotypic expression. The finding of GPFA is not necessarily indicative of unfavorable outcome.