[家族性部分性癫痫]

Kobayashi E, Cendes F, Sousa S C, Scotoni A E, Carvalho M I, Guerreiro M M, Guerreiro C A, Lopes-Cendes I

Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.

Arq Neuropsiquiatr. 2000 Sep;58(3B):862-8. doi: 10.1590/s0004-282x2000000500011.

OBJECTIVE

To investigate the clinical and genetic characteristics of familial partial epilepsies.

METHOD

Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained. All possibly affected individuals available underwent clinical evaluation. Seizures and epilepsy syndromes were classified according to the ILAE recommendations. Whenever possible, EEG and MRI were performed.

RESULTS

Positive family history was identified in 32 unrelated patients. A total of 213 possibly affected individuals were identified, 161 of whom have been evaluated. The number of affected subjects per family ranged from two to 23. Temporal lobe epilepsy (TLE) was identified in 22 families (68%), frontal lobe epilepsy in one family (3%), partial epilepsy with centrotemporal spikes in five families (15%), and other benign partial epilepsies of childhood in four families (12%). Most of the affected individuals in the TLE families (69%) had clinical and/or EEG characteristics of typical TLE. However, the severity of epilepsy was variable, with 76% of patients with spontaneous seizure remission or good control with medication and 24% with refractory seizures, including 7 patients that underwent surgical treatment. In the other 10 families, we identified 39 possibly affected subjects, 23 of whom were evaluated. All had good seizure control (with or without medication) except for one patient with frontal lobe epilepsy. Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance in all families.

CONCLUSION

Family history of seizures is frequent among patients with partial epilepsies. The majority of our families had TLE and its expression was not different from that observed in sporadic cases. The identification of genes involved in partial epilepsies may be usefull in classification of syndromes, to stablish prognosis and optimal treatment.

目的

研究家族性部分性癫痫的临床和遗传特征。

方法

对1997年10月至1998年12月在我们癫痫门诊随访的所有患者询问癫痫发作家族史。有阳性家族史者进一步调查并获取详细家系图。所有可获得的可能受累个体均接受临床评估。癫痫发作和癫痫综合征根据国际抗癫痫联盟（ILAE）的建议进行分类。尽可能进行脑电图（EEG）和磁共振成像（MRI）检查。

结果

在32例无亲缘关系的患者中发现阳性家族史。共确定了213名可能受累个体，其中161名已接受评估。每个家族中受累个体的数量从2人到23人不等。22个家族（68%）诊断为颞叶癫痫（TLE），1个家族（3%）为额叶癫痫，5个家族（15%）为伴有中央颞区棘波的部分性癫痫，4个家族（12%）为其他儿童良性部分性癫痫。TLE家族中的大多数受累个体（69%）具有典型TLE的临床和/或EEG特征。然而，癫痫的严重程度各不相同，76%的患者癫痫发作自发缓解或药物控制良好，24%为难治性癫痫发作，其中7例患者接受了手术治疗。在其他10个家族中，我们确定了39名可能受累个体，其中23名接受了评估。除1例额叶癫痫患者外，所有患者癫痫发作控制良好（无论是否用药）。家系分析提示所有家族均为常染色体显性遗传且外显不全。