摘要
患儿，男，16d，因“反复抽搐12d”于2006年7月入院。患儿系G1P1，足月顺产，出生体重3200g，Apgar评分1min 5分，5min 8分，生后一般情况可，出生第4天出现抽搐，表现为面部发绀、双眼凝视、双手握拳、四肢强直，每次持续约数十秒至1min，可自然缓解，每日发作1次至7～8次不等，发作后入睡，
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2008年第2期93-93,共1页
Chinese Journal of Pediatrics
参考文献2
-
1Ohtahara S, Yamatogi Y. Epileptic encephalopalhies in early infancy with suppression-bursl. J Clin Neurophysiol, 2003, 20: 398-407.
-
2Salamon N. Andres M, Chute DJ. et al. Contrateral hemimicrencephaly and clinicalpathological correlations in children with hemimegalencephaly. Brain, 2006, 129: 352-365.
同被引文献11
-
1Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst [ J ]. J Clin Neurophysiol, 2003,20 (6) :398-407.
-
2Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy[ J]. Nat Genet, 2008, 40 (6) :782-788.
-
3Deprez L, Weckhuysen S, Holmgren P, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations[ J]. Neurology, 2010, 75 ( 13 ) : 1159-1165.
-
4Hamdan FF, Gauthier J, Dobrzeniecka S, et al. Intellectual disability without epilepsy associated with STXBP1 disruption[ J]. Eur J Hum Genet, 2011, 19(5) :607-609.
-
5Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders [ J]. Nature, 2012, 485 (7397) :242-245.
-
6Riekman C, Medine CN, Bergmann A, et al. Functionally and spatially distinct modes of munel8-syntaxin 1 interaction [ J]. J Biol Chem,2007,282(16) :12097-12103.
-
7Shen J, Tareste DC, Paumet F, et al. Selective activation of cognate SNAREpins by Seel/Muncl8 proteins [J]. Cell, 2007, 128( 1 ) :183-195.
-
8Han GA, Malintan NT, Collins BM, et al. Muncl8-1 as a key regulator of neurosecretion [ J]. J Neurochem, 2010,115 ( 1 ) :1-10.
-
9Toonen RF, Wierda K, Sons MS, et al. Muncl8-1 expression levels control synapse recovery by regulating readily releasable pool size [ J]. Proc Natl Acad Sci U S A, 2006, 103 (48): 18332-18337.
-
10Gerber SH, Rab JC, Min SW, et al. Conformational switch of syntaxin-1 controls synaptic vesicle fusion [ J ]. Science, 2008, 321 (5895) : 1507-1510.
二级引证文献2
-
1付丽娜,苏堂枫,徐三清.先天性糖基化障碍ALG11基因突变致大田原综合征1例报道及文献复习[J].卒中与神经疾病,2021,28(6):684-688.
-
2中华医学会儿科学分会神经学组,中华儿科杂志编辑委员会,尹飞,姜玉武,彭镜,周水珍,方方,孙丹.中国发育性癫痫性脑病激素治疗临床实践指南(2022版)[J].中华儿科杂志,2022,60(11):1111-1117. 被引量：4
-
1马永寿,金建弼.先天性巨脑回畸形伴胼胝体发育不全致惊厥1例[J].实用医学杂志,2011,27(20):3655-3655.
-
2吴绍长.低分子肝素治疗短暂性脑缺血发作的临床研究[J].临床医学,2006,26(8):56-57.
-
3亢万虎,杨渭临.焦虑抑郁与脑萎缩(附9例临床分析)[J].临床精神医学杂志,1993,3(3):146-146.
-
4汤浩,雷霆,李龄.改良大脑半球切除术治疗儿童半侧巨脑畸形伴顽固性癫癎的研究[J].河南实用神经疾病杂志,2004,7(3):18-19. 被引量：1
-
5韩沁.以癫痫为首发症状的蛛网膜下腔出血1例报告[J].实用医院临床杂志,2010,7(1):109-109.
-
6严钢莉.以幻觉为首发症状的癫痫1例[J].疑难病杂志,2008,7(3):154-154. 被引量：1
-
7周立新,袁晶,王建明.体位性头痛[J].中国现代神经疾病杂志,2011,11(5):580-584.
-
8高国栋,梁秦川,贺世明.颅内脑电图为癫痫手术保驾护航[J].家庭医学（上半月）,2010(5):20-20.
-
9刘斋,何丽,王伟秀,任庆云.半侧巨脑畸形的临床及MRI诊断(附5例报告并文献复习)[J].中国临床医学影像杂志,2014,25(8):538-541. 被引量：3
-
10徐姜定.难治性癫痫治疗进展[J].浙江临床医学,2006,8(10):1009-1010. 被引量：13
