标题
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome
作者
关键词
-
出版物
GENES BRAIN AND BEHAVIOR
Volume 13, Issue 2, Pages 163-172
出版商
Wiley
发表日期
2013-10-24
DOI
10.1111/gbb.12099
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。- Sudden unexpected death in a mouse model of Dravet syndrome
- (2013) Franck Kalume et al. JOURNAL OF CLINICAL INVESTIGATION
- A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome
- (2012) Ikuo Ogiwara et al. EPILEPSIA
- Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq
- (2012) N. A. Hawkins et al. GENES BRAIN AND BEHAVIOR
- Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study
- (2012) Hendrik Rosewich et al. LANCET NEUROLOGY
- Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission
- (2012) Sung Han et al. NATURE
- De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
- (2012) Erin L Heinzen et al. NATURE GENETICS
- Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS
- (2012) Sanjeev Rajakulendran et al. Nature Reviews Neurology
- PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees
- (2012) Huaiyu Mi et al. NUCLEIC ACIDS RESEARCH
- Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome
- (2012) C. S. Cheah et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Identification of novel transcripts in annotated genomes using RNA-Seq
- (2011) A. Roberts et al. BIOINFORMATICS
- Dravet syndrome: The long-term outcome
- (2011) Pierre Genton et al. EPILEPSIA
- Epilepsy and the new cytogenetics
- (2011) John C. Mulley et al. EPILEPSIA
- The relevance of individual genetic background and its role in animal models of epilepsy
- (2011) P. Elyse Schauwecker EPILEPSY RESEARCH
- The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters α6β2γ2 and α6β2δ GABAAreceptor channel gating and expression
- (2011) Ciria C. Hernandez et al. JOURNAL OF PHYSIOLOGY-LONDON
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility
- (2011) B. S. Jorge et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs
- (2011) Eija H. Seppälä et al. PLoS Genetics
- Improving RNA-Seq expression estimates by correcting for fragment bias
- (2011) Adam Roberts et al. GENOME BIOLOGY
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene
- (2010) Renzo Guerrini et al. EPILEPSIA
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
- (2010) C. Depienne et al. JOURNAL OF MEDICAL GENETICS
- Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
- (2010) Miriam H. Meisler et al. JOURNAL OF PHYSIOLOGY-LONDON
- Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
- (2010) Cole Trapnell et al. NATURE BIOTECHNOLOGY
- Milder phenotype with SCN1A truncation mutation other than SMEI
- (2010) Mei-Juan Yu et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences
- (2010) Jeremy Goecks et al. GENOME BIOLOGY
- TopHat: discovering splice junctions with RNA-Seq
- (2009) Cole Trapnell et al. BIOINFORMATICS
- Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
- (2009) Ingrid E. Scheffer et al. BRAIN & DEVELOPMENT
- TheSCN1Avariant database: a novel research and diagnostic tool
- (2009) Lieve RF Claes et al. HUMAN MUTATION
- A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome
- (2009) G. A. Patino et al. JOURNAL OF NEUROSCIENCE
- Fine mapping of an epilepsy modifier gene on mouse Chromosome 19
- (2009) Sarah K. Bergren et al. MAMMALIAN GENOME
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Mutation I810N in the 3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS
- (2009) S. J. Clapcote et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats
- (2009) Wayne N. Frankel TRENDS IN GENETICS
- Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
- (2009) Ben Langmead et al. GENOME BIOLOGY
- Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
- (2008) C Depienne et al. JOURNAL OF MEDICAL GENETICS
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search