CAJ | 학술논문

目的探讨肌阵挛-站立不能性癫痫(MAE)的临床特点、药物疗效及可能的分子遗传学机制.方法根据2001年国际抗癫痫联盟癫痫综合征分类标准对自2006年至2008年在广州医学院第二附属医院神经内科就诊的MAE患者进行诊断,收集患者的临床资料及外周血DNA,采用高效液相色谱分析和直接测序法对电压门控性钠通道α1亚基(5CN1A)基因突变进行筛查,并对其临床治疗情况随访1年以上.结果共收集10例MAE患者,其中散发8例,有热性惊厥或癫痫家族史者2例;起病年龄介于5～39个月间;有多种全面性发作形式;2例曾出现癫痫持续状态;起病后精神发育迟滞者7例.对其中8例患者进行SCN1A基因突变筛查,均未发现突变.丙戊酸、氯硝安定和左乙拉西坦疗效最好,部分患者托吡酯和拉莫三嗪治疗亦有效.结论 MAE是少见的癫痫综合征,分子遗传学机制不明,丙戊酸、氯硝安定和左乙拉西坦治疗有效,但预后较差.
목적 탐토기진련-참립불능성전간(MAE)적림상특점、약물료효급가능적분자유전학궤제.방법 근거2001년국제항전간련맹전간종합정분류표준대자2006년지2008년재엄주의학원제이부속의원신경내과취진적MAE환자진행진단,수집환자적림상자료급외주혈DNA,채용고효액상색보분석화직접측서법대전압문공성납통도α1아기(5CN1A)기인돌변진행사사,병대기림상치료정황수방1년이상.결과 공수집10례MAE환자,기중산발8례,유열성량궐혹전간가족사자2례;기병년령개우5～39개월간;유다충전면성발작형식;2례증출현전간지속상태;기병후정신발육지체자7례.대기중8례환자진행SCN1A기인돌변사사,균미발현돌변.병무산、록초안정화좌을랍서탄료효최호,부분환자탁필지화랍막삼진치료역유효.결론 MAE시소견적전간종합정,분자유전학궤제불명,병무산、록초안정화좌을랍서탄치료유효,단예후교차.
Objective To study the clinical features and genetic mechanism of myoclonic-astafic epilepsy (MAE) in infancy. Methods This study was conducted among 10 infants with MAE (including 7 male and 3 female patients) diagnosed between 2006 and 2008 according to the criteria of International League Against Epilepsy (2001). The clinical data including onset age, seizure type, physical signs, EEG, brain maguetic resonance imaging (MRI), effects of anti-epileptic drugs and prognosis were analyzed. The mutations of voltage-gated sodium channel subunit type 1 gene (SCN1A gene) were screened by denaturing high performance liquid chromatography and direct sequencing. Results The 10 MAE cases included 8 sporadic cases and 2 with a family history of febrile seizure and epilepsy. The onset age ranged from 5 months to 39 months, and all the MAE patients had multiple generalized seizure types, including myoclonic-atonic, myoclonic, atonic, tonic-clonic and absence seizures. Two patients had myoclonic status epilepticus, and 7 showed mental retardation. All the patients showed normal findings in MRI. SCN1A gene was screened in 8 of the MAE patients, and no mutation was found. Valproate, clonazepam and levetiracetam were effective in these MAE cases. Conclusion MAE is a rare epilepsy syndrome, whose genetic mechanism is still unclear. Valproate, clonazepam and levetiracetam are effective for MAE, which is associated with poor prognosis.