标题
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
作者
关键词
-
出版物
Frontiers in Neurology
Volume 6, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2015-05-15
DOI
10.3389/fneur.2015.00104
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability
- (2015) Weijing Kong et al. EPILEPSIA
- Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
- (2015) Saadet Mercimek-Mahmutoglu et al. EPILEPSIA
- De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy
- (2015) Maxime G Blanchard et al. JOURNAL OF MEDICAL GENETICS
- The phenotypic spectrum of SCN8A encephalopathy
- (2015) J. Larsen et al. NEUROLOGY
- Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation
- (2015) R. Singh et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
- (2014) D.A. Dyment et al. CLINICAL GENETICS
- Early onset epileptic encephalopathy caused by de novoSCN8Amutations
- (2014) Chihiro Ohba et al. EPILEPSIA
- Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
- (2014) Carolien G.F. de Kovel et al. EPILEPSY RESEARCH
- Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
- (2014) Jacy L. Wagnon et al. HUMAN MOLECULAR GENETICS
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
- (2014) Mark Estacion et al. NEUROBIOLOGY OF DISEASE
- Molecular identity of axonal sodium channels in human cortical pyramidal cells
- (2014) Cuiping Tian et al. Frontiers in Cellular Neuroscience
- Action Potential Initiation in Neocortical Inhibitory Interneurons
- (2014) Tun Li et al. PLOS BIOLOGY
- AnSCN2Amutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+current
- (2013) Stephan Lauxmann et al. EPILEPSIA
- Modeling human epilepsy by TALEN targeting of mouse sodium channelScn8a
- (2013) Julie M. Jones et al. GENESIS
- De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders
- (2013) Ulvi Vaher et al. JOURNAL OF CHILD NEUROLOGY
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
- (2013) Janelle E. O'Brien et al. Frontiers in Genetics
- De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
- (2012) Krishna R. Veeramah et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Voltage-gated sodium channels at 60: structure, function and pathophysiology
- (2012) William A. Catterall JOURNAL OF PHYSIOLOGY-LONDON
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- A Proton Leak Current through the Cardiac Sodium Channel Is Linked to Mixed Arrhythmia and the Dilated Cardiomyopathy Phenotype
- (2012) Pascal Gosselin-Badaroudine et al. PLoS One
- Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
- (2010) Yunxiang Liao et al. BRAIN
- A sodium channel mutation linked to epilepsy increases ramp and persistent current of Nav1.3 and induces hyperexcitability in hippocampal neurons
- (2010) Mark Estacion et al. EXPERIMENTAL NEUROLOGY
- Dysfunction of theScn8aVoltage-gated Sodium Channel Alters Sleep Architecture, Reduces Diurnal Corticosterone Levels, and Enhances Spatial Memory
- (2010) Ligia A. Papale et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
- (2010) Miriam H. Meisler et al. JOURNAL OF PHYSIOLOGY-LONDON
- SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
- (2010) Y. Liao et al. NEUROLOGY
- Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
- (2009) Ligia A. Papale et al. HUMAN MOLECULAR GENETICS
- Cell-Type-Dependent Molecular Composition of the Axon Initial Segment
- (2009) A. Lorincz et al. JOURNAL OF NEUROSCIENCE
- FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels
- (2009) Fernanda Laezza et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation
- (2009) Wenqin Hu et al. NATURE NEUROSCIENCE
- De novo mutations of voltage-gated sodium channel II gene SCN2A in intractable epilepsies
- (2009) I. Ogiwara et al. NEUROLOGY
- Exaggerated emotional behavior in mice heterozygous null for the sodium channelScn8a(Nav1.6)
- (2008) B. C. McKinney et al. GENES BRAIN AND BEHAVIOR
- Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
- (2008) Katherine D. Holland et al. NEUROSCIENCE LETTERS
- Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor
- (2008) Lisa M. Sharkey et al. PARKINSONISM & RELATED DISORDERS
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now