High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
出版年份 2017 全文链接
标题
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
作者
关键词
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出版物
GENETICS IN MEDICINE
Volume 20, Issue 4, Pages 403-410
出版商
Springer Nature
发表日期
2017-08-24
DOI
10.1038/gim.2017.114
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant
- (2016) Isabelle Thiffault et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- PCDH19-related epilepsy in two mosaic male patients
- (2016) Alessandra Terracciano et al. EPILEPSIA
- Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing
- (2016) Lan Qin et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- The Contribution of Mosaic Variants to Autism Spectrum Disorder
- (2016) Donald Freed et al. PLoS Genetics
- Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
- (2015) Rocio Acuna-Hidalgo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Variable clinical expression in patients with mosaicism forKCNQ2mutations
- (2015) Mathieu Milh et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing
- (2015) Takeshi Kato et al. BRAIN & DEVELOPMENT
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
- (2015) Lisa R. Susswein et al. GENETICS IN MEDICINE
- Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo”SCN1AMutations in Children with Dravet Syndrome
- (2015) Xiaojing Xu et al. HUMAN MUTATION
- SCN2Aencephalopathy
- (2015) Katherine B. Howell et al. NEUROLOGY
- Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Complex mosaicCDKL5deletion with two distinct mutant alleles in a 4-year-old girl
- (2014) Nadia Boutry-Kryza et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Optimizing the molecular diagnosis ofCDKL5gene-related epileptic encephalopathy in boys
- (2014) Davide Mei et al. EPILEPSIA
- Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings
- (2014) Ayelet Zerem et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation
- (2013) Mitsuhiro Kato et al. EPILEPSIA
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
- (2013) K. Nakamura et al. NEUROLOGY
- PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder
- (2012) Christel Depienne et al. HUMAN MUTATION
- Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR
- (2012) A. Terracciano et al. NEUROGENETICS
- Clinical spectrum of SCN2A mutations
- (2011) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
- (2011) Magdalena Bartnik et al. GENETICS IN MEDICINE
- Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family
- (2011) Markus Draaken et al. HUMAN GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
- (2011) L. M. Dibbens et al. NEUROLOGY
- Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males
- (2010) Julien Masliah-Plachon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
- (2010) C. Depienne et al. JOURNAL OF MEDICAL GENETICS
- Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria
- (2009) R. Artuso et al. BRAIN & DEVELOPMENT
- Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
- (2009) S. Russo et al. NEUROGENETICS
- Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
- (2009) Christel Depienne et al. PLoS Genetics
- Key clinical features to identify girls with CDKL5 mutations
- (2008) Nadia Bahi-Buisson et al. BRAIN
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