SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
about
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsPathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathySCN8A encephalopathy: Research progress and prospectsGene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathyAltered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.The contribution of next generation sequencing to epilepsy genetics.Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.Precision medicine in genetic epilepsies: break of dawn?SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresPrecision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy.Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
P2860
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P2860
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
SCN8A mutations in Chinese chi ...... y and intellectual disability.
@en
SCN8A mutations in Chinese chi ...... y and intellectual disability.
@nl
type
label
SCN8A mutations in Chinese chi ...... y and intellectual disability.
@en
SCN8A mutations in Chinese chi ...... y and intellectual disability.
@nl
prefLabel
SCN8A mutations in Chinese chi ...... y and intellectual disability.
@en
SCN8A mutations in Chinese chi ...... y and intellectual disability.
@nl
P2093
P2860
P356
P1433
P1476
SCN8A mutations in Chinese chi ...... y and intellectual disability.
@en
P2093
Jingmin Wang
Weijing Kong
Xiaoyan Liu
Yuehua Zhang
Yujia Zhang
P2860
P304
P356
10.1111/EPI.12925
P577
2015-02-26T00:00:00Z