论文部分内容阅读
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。
To investigate the genetic patterns, clinical features, EEG and chromosome status of two epileptic high incidence pedigrees. Methods The genetics of pedigree was analyzed by pedigree. Age, seizure pattern, treatment and prognosis, physical and mental development, EEG and laboratory findings were analyzed. Check their chromosome karyotype and sister chromosomal exchange. Results The two families were autosomal dominant inheritance. Twenty-nine of the 39 patients had an age of onset of 3 months to 1 year after birth. Patients in family I were mainly deaf (17/23) and those in family II were partially seizures (11/16). Thirty-three patients in both families (including 20 who did not receive anti-epilepsy) seizures disappeared at 3 to 5 years of age. 4 cases of mild abnormal EEG. Other people are normal. Nine cases were induced by US hypnosis. 2 cases of epileptic waves. Physical examination and neurological examination, laboratory tests, intelligent tests, chromosome number and morphology were normal, family Ⅰ sister sister exchange rate of chromosome (SCE), higher than the control group (P <0.05), family Ⅱ SCE and control group Significant difference (P> 0.05). Conclusion The clinical features and laboratory findings of the two families are consistent with the diagnostic criteria of benign familial infantile epilepsy. They are characterized by the first episode of no febrile seizures in infancy and normal physical and mental development. EEG examination episodes of normal, similar to a family history of attack.