良性家族性婴儿癫痫两高发家系临床特征及染色体研究

探讨两癫痫高发家系的遗传方式、临床特点、脑电图及染色体情况。方法采用系谱分析其遗传方式，分别分析发病年龄、发作方式、治疗及预后、身心发育情况、脑电图及实验室检查结果。检查其染色体核型及姊妹染色体交换情况。结果两家系遗传方式均为常染色体显性遗传。39例患者中的29例发病年龄在出生后3个月～1岁。家系Ⅰ的患者主要失神发作（17／23人），家系Ⅱ的患者以部分发作为主（11／16人）。两家系中33例患者（包括20例未接受抗癫痫治疗者）发作于3～5岁时消失。4例脑电图轻度异常．其他人均正常。9例采用美解眠诱发的患者．2例出现癫痫波。体检及神经系统检查、实验室检查、智能测验、染色体数目及形态均正常，家系Ⅰ姊妹染色体互换率（SCE），高于对照组（P＜0．05），家系ⅡSCE与对照组间无显著性差异（P＞0．05）。结论两家系患者的临床特征及辅助检查结果符合良性家族性婴儿癫痫的诊断标准，其特点为婴儿期首发的无热惊厥，身心发育正常．脑电图检查发作间期正常，有类似发作的家族史。

Study of chromosomes and clinical features in two families of benign familial infantile convulsions

To research chromosomes and clinical features in two families of benign familial infantile (BFIC).Methods Patients and their relatives of the families were investigated respectively, including heredity pattern.clinical manifestation. nature of seizures. EEG records. number and shape of chroniosomes. sister chromosome exchange rate.Results Heredity pattern of epilepsy in the famiIies was autosomal dominant. In 39 patients with epilepsy 29patients were at the ages of 3 to 12 months old. Seizures in family one. patients were mainly absences and in familytwo were mainly partial seizures. 13 anticonvulsants treated patients and 20 untreated patients gradually seizure freebetween ages of 3 and 5 years old. EEG results revaled 5 patients were milderly abnormal. Neurological examinationand laboratory work-up were normal. Sister chromosome exchange rate was higher in family one compared with thecontrols (P<0. 05).Conclusion Patients of the two families met the criteria of BFIC and characterized by afebrile seizures in infancy,normal neurodevelopmental status. normal interictal EEG and family history of a similar seizure disorder.