Generalized epilepsy with febrile seizures plus(GEFS+)is a familial in herited epileptic syndrome characterized by phenotypic heterogeneity from the mi lder febrile seizures to the severest epileptic encephalopathy su...Generalized epilepsy with febrile seizures plus(GEFS+)is a familial in herited epileptic syndrome characterized by phenotypic heterogeneity from the mi lder febrile seizures to the severest epileptic encephalopathy such as severe my oclonic epilepsy in infancy(SMEI).GEFS+ is a disorder with a genetic heterogen eity.Molecular genetics have revealed that four genes are associated with the p athogenesis of GEFS+.These include mutations in genes encoding subunits of neur onal voltage-gated sodium channels(SCN1A,SCN1B,SCN2A)and γ2 subunit of the gamma amino-butyric acid(GABA)A receptor(GABRG2).These genes have be en confir med as having a role in autosomal dominant GEFS+ families.In addition,the phen otypes of the affected members may depend on the types and locations of these ge ne mutations.This review states the molecular genetic progress of GEFS+ in brie f.展开更多
文摘Generalized epilepsy with febrile seizures plus(GEFS+)is a familial in herited epileptic syndrome characterized by phenotypic heterogeneity from the mi lder febrile seizures to the severest epileptic encephalopathy such as severe my oclonic epilepsy in infancy(SMEI).GEFS+ is a disorder with a genetic heterogen eity.Molecular genetics have revealed that four genes are associated with the p athogenesis of GEFS+.These include mutations in genes encoding subunits of neur onal voltage-gated sodium channels(SCN1A,SCN1B,SCN2A)and γ2 subunit of the gamma amino-butyric acid(GABA)A receptor(GABRG2).These genes have be en confir med as having a role in autosomal dominant GEFS+ families.In addition,the phen otypes of the affected members may depend on the types and locations of these ge ne mutations.This review states the molecular genetic progress of GEFS+ in brie f.
文摘目的 基于“百病皆为痰作祟”理论探讨祛风导痰汤对续发性全身强直-阵挛性发作癫痫患者的临床疗效。方法 选取2018年1月—2020年3月续发性全身强直-阵挛性发作癫痫患者92例,随机分两组,对照组采用电子生物反馈技术;联合组采用基于“百病皆为痰作祟”理论的祛风导痰汤联合电子生物反馈技术,持续3个月。治疗后评价患者临床疗效、癫痫生活质量评定量表(quality of life rating scale for patients with epilepsy, QOLIE-31)、连线测验A-B、数字符号转换测验(digital symbol conversion test, DSST)、词语流畅性测验(verbal fluency test, VFT)、数字广度测验(digit span test, DST)等,比较两组不良反应。结果 对照组的有效率78.26%(36/46)低于联合组93.48%(43/46),有统计学意义(P<0.05)。对照组治疗3个月综合质量、情绪、总体健康、药物影响、认知功能、社会功能、精力、对发作担忧评分均低于联合组,有统计学意义(P<0.05)。对照组治疗3个月连线测验A、连线测验B高于联合组,DSST评分、VFT评分、DST评分低于联合组,有统计学意义(P<0.05)。对照组总不良反应率23.91%(11/46)与联合组28.26%(13/46)比较,无统计学意义(P>0.05)。结论 基于“百病皆为痰作祟”理论的祛风导痰汤对续发性全身强直-阵挛性发作癫痫患者的临床疗效显著,可以改善认知功能,从而提高生活质量。
