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科研机构
上海神经科学研究所 [3]
山东大学 [2]
复旦大学上海医学院 [2]
北京大学 [1]
心理研究所 [1]
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期刊论文 [9]
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G Mutation">Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A > G Mutation
期刊论文
CHINESE MEDICAL JOURNAL, 2018, 卷号: 131, 期号: 20, 页码: 2433-2438
作者:
Su, Li-Jun
;
Wang, Yu-Liang
;
Han, Tao
;
Qiao, Shan
;
Zang, Ke-Jun
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/11
Clonazepam
Levetiracetam
Myoclonic Epilepsy with Ragged-Red Fibers
Myoclonic Seizures
Altered relationship between thickness and intrinsic activity amplitude in generalized tonic-clonic seizures
期刊论文
SCIENCE BULLETIN, 2016, 卷号: 61, 期号: 24, 页码: 1865-1875
作者:
Liao, Wei
;
Wang, Jue
;
Xu, Ting
;
Zhang, Zhiqiang
;
Ji, Gong-Jun
收藏
  |  
浏览/下载:51/0
  |  
提交时间:2017/02/13
Cortex thickness
Generalized tonic-clonic seizures
Intrinsic brain activity amplitude
Morphometric-functional relationship
Resting state
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome
期刊论文
HUMAN MUTATION, 2015
Xu, Xiaojing
;
Yang, Xiaoxu
;
Wu, Qixi
;
Liu, Aijie
;
Yang, Xiaoling
;
Ye, Adam Yongxin
;
Huang, August Yue
;
Li, Jiarui
;
Wang, Meng
;
Yu, Zhe
;
Wang, Sheng
;
Zhang, Zhichao
;
Wu, Xiru
;
Wei, Liping
;
Zhang, Yuehua
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2017/12/03
de novo
mosaic
Dravet syndrome
SCN1A
next-generation sequencing
somatic mutation
SEVERE MYOCLONIC EPILEPSY
AUTISM SPECTRUM DISORDERS
HUMAN GENETIC-DISEASE
SOMATIC MOSAICISM
MISSENSE MUTATION
FEBRILE SEIZURES
POINT MUTATIONS
DENOVO MUTATION
MARFAN-SYNDROME
ALPORT-SYNDROME
CHD2 myoclonic encephalopathy: Self-induced seizures, photosensitivity and variable cognitive outcome
期刊论文
Epilepsy Currents, 2015
作者:
Thomas R., Zhang L.M., Carvill G.L., Archer J., Mandelstam S., Craiu D., Berkovic S., Gill D., Mefford H., Scheffer I.
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/19
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
期刊论文
NEUROLOGY, 2015, 卷号: 84, 期号: 9
作者:
Thomas, Rhys H.
;
Zhang, Lin Mei
;
Carvill, Gemma L.
;
Archer, John S.
;
Heavin, Sinead B.
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/19
Molecular identity of axonal sodium channels in human cortical pyramidal cells
期刊论文
FRONTIERS IN CELLULAR NEUROSCIENCE, 2014, 卷号: 8, 期号: 1, 页码: 297-297
Tian, CP
;
Wang, KY
;
Ke, W
;
Guo, H
;
Shu, YS
收藏
  |  
浏览/下载:20/0
  |  
提交时间:2014/12/15
ACTION-POTENTIAL INITIATION
CEREBELLAR PURKINJE NEURONS
SEVERE MYOCLONIC EPILEPSY
KAINATE-INDUCED SEIZURES
CHANDELIER CELLS
CEREBRAL-CORTEX
VISUAL-CORTEX
IN-VIVO
MULTIPLE-SCLEROSIS
ABSENCE EPILEPSY
Action Potential Initiation in Neocortical Inhibitory Interneurons
期刊论文
PLOS BIOLOGY, 2014, 卷号: 12, 期号: 9, 页码: e1001944-e1001944
Li, T
;
Tian, CP
;
Scalmani, P
;
Frassoni, C
;
Mantegazza, M
;
Wang, YH
;
Yang, MP
;
Wu, S
;
Shu, YS
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2014/12/15
CEREBELLAR PURKINJE NEURONS
NEONATAL-INFANTILE SEIZURES
SEVERE MYOCLONIC EPILEPSY
DE-NOVO MUTATIONS
SODIUM-CHANNEL
PYRAMIDAL NEURONS
GABAERGIC INTERNEURONS
DRAVET SYNDROME
ION CHANNELS
MOUSE MODEL
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Na(v)1.1
期刊论文
EPILEPSIA, 2010, 卷号: 51, 期号: 9, 页码: 1669-1678
Liao, Wei-Ping
;
Shi, Yi-Wu
;
Long, Yue-Sheng
;
Zeng, Yang
;
Li, Tian
;
Yu, Mei-Juan
;
Su, Tao
;
Deng, Ping
;
Lei, Zhi-Gang
;
Xu, Shu-Jun
;
Deng, Wei-Yi
;
Liu, Xiao-Rong
;
Sun, Wei-Wen
;
Yi, Yong-Hong
;
Xu, Zao C.
;
Duan, Shumin
收藏
  |  
浏览/下载:52/0
  |  
提交时间:2012/07/13
SCN1A
Channelopathy
Partial epilepsy
Febrile seizures
Sodium channel
SEVERE MYOCLONIC EPILEPSY
NEURONAL SODIUM-CHANNEL
FAMILIAL HEMIPLEGIC MIGRAINE
TEMPORAL-LOBE EPILEPSY
GENERALIZED EPILEPSY
SCN1A MUTATIONS
NA+ CHANNEL
GENE SCN1A
INFANCY
PLUS
Microchromosomal deletions involving SCNIA and adjacent genes in severe myoclonic epilepsy in infancy
期刊论文
EPILEPSIA, 2008, 卷号: 49, 期号: 9, 页码: 1528-1534
作者:
Wang, Ji-wen
;
Kurahashi, Hirokazu
;
Ishii, Atsushi
;
Kojima, Toshio
;
Ohfu, Masaharu
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/26
febrile seizures
GEFS
channelopathy
copy number variant
continuous
gene syndrome
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