Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
出版年份 2014 全文链接
标题
Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
作者
关键词
-
出版物
EPILEPSIA
Volume 55, Issue 4, Pages e25-e29
出版商
Wiley
发表日期
2014-03-03
DOI
10.1111/epi.12554
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。- Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
- (2013) Federico Zara et al. EPILEPSIA
- Whole genome sequencing identifiesSCN2Amutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
- (2013) Marlin Touma et al. EPILEPSIA
- Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
- (2013) Krishna R. Veeramah et al. EPILEPSIA
- From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
- (2013) Chee-Seng Ku et al. JOURNAL OF MEDICAL GENETICS
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Sodium channels and the neurobiology of epilepsy
- (2012) Megan Oliva et al. EPILEPSIA
- Targeted next generation sequencing as a diagnostic tool in epileptic disorders
- (2012) Johannes R. Lemke et al. EPILEPSIA
- Acute encephalopathy with a novel point mutation in the SCN2A gene
- (2012) Katsuhiro Kobayashi et al. EPILEPSY RESEARCH
- Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
- (2012) Ji-wen Wang et al. EPILEPSY RESEARCH
- Cohort Profile: A population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK)
- (2012) Meike Kasten et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
- (2010) Yunxiang Liao et al. BRAIN
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
- (2010) Y. Liao et al. NEUROLOGY
- Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
- (2009) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- De novo mutations of voltage-gated sodium channel II gene SCN2A in intractable epilepsies
- (2009) I. Ogiwara et al. NEUROLOGY
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 MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started