摘要
Dravet综合征（DS）亦称婴儿严重肌阵孪性癫痫，是儿童期起病的由遗传因素引起的罕见的癫痫性脑病，病程延伸到成年，其总体发病率为1／40000～1／20000，男：女比例约为2：1。现对DS综述如下。1临床特点。发热、感染或疫苗接种、光以及图形刺激均是DS发病的重要诱发因素。有时光环境中的自我刺激在闭眼亦可诱发，然而光刺激到20岁时就不会再诱发DS发作；其他的诱因包括热水浴、体育锻炼、情感反应、喧闹环境等。
出处
《临床神经病学杂志》
CAS
北大核心
2012年第4期316-317,共2页
Journal of Clinical Neurology
二级参考文献24
-
1吴华平,钟建民.全面性癫痫伴热性惊厥附加症与钠通道分子遗传学研究进展[J].国外医学（神经病学．神经外科学分册）,2005,32(2):117-120. 被引量：2
-
2王纪文,石秀玉,孙若鹏.婴儿严重肌阵挛性癫疒间研究进展[J].中国实用儿科杂志,2005,20(9):566-568. 被引量：3
-
3宋延民,唐北沙.热性惊厥及相关癫痫综合征的分子遗传学进展[J].国际神经病学神经外科学杂志,2006,33(5):475-479. 被引量：5
-
4Claes L, Ceulemaus B, Audenaert D, et al. De Novo SCN1A mutations are a major cause of severe myoclonie epilepsy of infancy. Hum Mutat,2003, 21 (6) : 615-621.
-
5Fukuma G, Oguni H, Shirasaka Y, et al. Mutations of neuronal voltage- gated Na^+ channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy ( SMEI ) and in borderline SMEI ( SMEB ). Epilepsia, 2004,45(2) : 140-148.
-
6Oguni H, Hayashi K, Awaya Y, et al. Severe myoclonic epilepsy in infants- a review based on the Tokyo Women' s Medical University series of 84 cases. Brain Dev,2001,23(7) :736-748.
-
7Tanabe T, Awaya Y, Matsuishi T, et al. Survey of vaccination and viral infections for children with severe myoclonic epilepsy in infancy. No To Hattatsu, 2004,36(4) :318-323.
-
8Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel alpha subunit type 1 (SCN1 A) in intractable childhood epilepsies with frequent generalized tonic clonic seizures. Brain, 2003,126(Pt3) : 531- 546.
-
9Fujiwara T. Clinical spectrum of mutations in SCN1A gene: Severemyodonic epilepsy in infancy and relatedepilepsies. Epilepsy Res, 2006, 70 ( Suppl 1 ) : S223-230.
-
10Lossin C. A catalog of SCN1A variants. Brain Dev,2009,31 (2) : 114-130.
共引文献1
-
1樊沛楠,解景,白育军,白亚军,张群正,郑晓晖.α-细辛醇的放大合成[J].化学研究与应用,2021,33(9):1838-1843.
同被引文献42
-
1张月华,马秀伟.Dravet综合征研究进展[J].发育医学电子杂志,2013,1(4):219-222. 被引量：1
-
2Glauser T,Ben Menachem E,Bourgeois B,et al.Upda- ted ilae evidence review of antiepileptic drug efficacy and effectiveness as initial monotherapy for epileptic seizures and syndromes[J].Epilepsia,2013,54(3):551-563.
-
3Camfield P R.Definition and natural history of Lennox- Gastaut syndrome[J].Epilepsia,2011,52(Suppl 5):S3-S9.
-
4Crumrine P K.Management of seizures in Lennx-Gastaut syndrome[J].Paediatr Drugs,2011,13(2):107-118.
-
5Mangano S,Fontana A,Spitaleri C,et al.Benign my- oclonic epilepsy in infancy followed by childhood absence epilepsy[J].Seizure,2011,20(9):727-730.
-
6Gaspard N,Suis A,Vilain C,et al.Benign myoclonic epilepsy of infancy as the initial clinical presentation ofa slc2al mutation[J].Eur J Paediatr Neurol,2011,15(Suppl 1):S124-S125.
-
7Hirabayashi Y,Okumura A,Kondo T,et al.Efficacy of a diazepam suppository at preventing febrile seizure recur- rence during a single febrile illness[J].Brain Dev,2009,31(6):414-418.
-
8Lossin C.A catalog of scnla variants[J].Brain Dev,2009,31(2):114-130.
-
9Juberg RC, Hellman CD. A new familial form of convulsive disorder and mental retardation limited to females [ J ]. J Pediatr, 1971, 79(5 ) :726-732. DOI : 10. 1016/S0022-3476(71 )80382-7.
-
10Dibbens LM, Tarpey PS, Hynes K, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment[J]. Nat Genet, 2008, 40 (6) :776-781. DOI: 10. 1038/ng. 149.
二级引证文献4
-
1梁静,范勇.认知行为疗法联合药物治疗对癫痫性精神障碍的临床效果[J].中国继续医学教育,2018,10(16):66-68. 被引量：7
-
2刘晓军,张培元,雷梅芳,韦新平,于晓莉,李东,舒剑波,蔡春泉,张玉琴.早期癫性脑病临床表型和基因突变特征及二代基因测序在病因诊断中的应用[J].中国现代神经疾病杂志,2018,18(6):428-437. 被引量：2
-
3李小亚,付辉,张琰,张静,王维.Lennox-Gastaut综合征儿童的脑电特征及与精神运动发育迟滞的相关性[J].中西医结合心脑血管病杂志,2018,16(10):1334-1337. 被引量：4
-
4张雪峰.丙戊酸钠对孕龄期女性癫痫患者性激素及内分泌因子的影响[J].中国药物与临床,2021,21(22):3698-3700.
-
1王君香,黄颖,陈昌明.色彩图形刺激对改善痴呆老人地点定向力的效果观察[J].广西中医药大学学报,2016,19(1):54-56.
-
2郑旭宁,朱雄超,徐秋芳,黄一宁,柳扬.光刺激引起大脑后动脉血流动力学改变的TCD研究[J].中华急诊医学杂志,2004,13(2):126-127. 被引量：2
-
3王凤楼,崔林阳.光敏性癫癎七例报告[J].天津医药,1999,27(7):429-430.
-
4医者仁心1993.15条,判定孩子是否孤独症[J].健康管理,2014,0(11):47-52.
-
5男人尽量少洗鸳鸯浴[J].人人健康,2010(7):49-49.
-
6张淑倩,叶玉芳,孙吉林,吴杰,贾秀川,李素敏,吴晶,赵华东,刘连祥,吴育锦.不同视野图形刺激的视觉诱发磁场研究[J].中华神经科杂志,2004,37(6):578-579. 被引量：1
-
7王昆明,庄嘉鑫,饶立德,吴淑娥.儿童热刺激诱发反射性癫痫1例[J].现代诊断与治疗,2008,19(6):381-381. 被引量：1
-
8邱占国,是明启,朱长保,郝国.农村惊厥性癫癎210例脑电图分析[J].中国实用神经疾病杂志,2013,16(11):67-68.
-
9林忠东,胡鸿文,方海珍.全自动视野分析仪检查诱发癫痫发作1例[J].中国当代儿科杂志,1999,1(4):217-217.
-
10李茂林,王祝峰,王东杰,刘鑫,焦杨.持续性植物状态85例预后的相关因素[J].第四军医大学学报,2009,30(8):703-703. 被引量：1
