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目的探讨全面性癫伴热性惊厥附加症(GEFS+)的临床和脑电图(EEG)特点。方法收集4个GEFS+的家系资料,通过详细的调查建立完善的家系谱,并对受累者的临床资料、EEG进行分析总结。结果4个家系共有60名成员,其中受累者20例,表现为FS者5例,FS+者7例,FS+与失神发作2例,FS+与肌阵挛发作1例,FS+与失神和肌阵挛发作1例,此例患者发作间期EEG呈现局灶性癫放电和全面性癫放电共存的现象,1例表现为FS+和部分性发作,其发作间歇期EEG呈现中央中颞棘波灶,个体诊断符合良性罗兰多区癫。另外,受累者有肯定的临床发作,但是由于不能收集到可靠的发作表现资料,无法进行发作分类者3例。受累者神经系统检查以及头颅CT或磁共振成像(MRI)检查均未见异常。结论GEFS+的正确诊断需要注重个体,立足于整个家系进行,其临床发作谱还包括部分性发作,脑电图也有局灶的癫样放电。良性罗兰多区癫也许是GEFS+的一个新表现型。
Objective To investigate the clinical and electroencephalographic (EEG) features of total epilepsy with febrile seizures (GEFS +). Methods Four pedigree data of GEFS + were collected, and a complete pedigree was established through detailed investigation. The clinical data of EEG were analyzed and summarized. Results There were 60 members in 4 families, 20 of them were affected. Among them, 5 were FS, FS + 7, FS + and deafness were 2, FS + and myoclonus were 1, FS + and deaf and myoclonus 1 case of seizures, this patient interictal EEG showed focal epilepsy and generalized epileptic discharge coexistence phenomenon, 1 case showed FS + and partial seizures, the onset of intermittent EEG showed central temporal spike Individual diagnosis consistent with benign Roland multi-region epilepsy. In addition, there was a definite clinical attack in the affected persons, but three patients were not able to be classified because they were unable to collect reliable seizure performance data. Patients with neurological examination and head CT or magnetic resonance imaging (MRI) examination showed no abnormalities. Conclusions Correct diagnosis of GEFS + needs to be individual-focused and based on the entire pedigree. The clinical spectrum of seizures also includes partial seizures and focal epileptiform discharges of EEG. Benign Roland multiple-area epilepsy may be a new phenotype of GEFS +.