Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
出版年份 2016 全文链接
标题
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 5, Pages 310-317
出版商
BMJ
发表日期
2016-03-19
DOI
10.1136/jmedgenet-2015-103263
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。- The phenotypic spectrum of SCN8A encephalopathy
- (2015) J. Larsen et al. NEUROLOGY
- If not Angelman, what is it? a review of Angelman-like syndromes
- (2014) Wen-Hann Tan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genetic and phenotypic diversity ofNHE6mutations in Christianson syndrome
- (2014) Matthew F. Pescosolido et al. ANNALS OF NEUROLOGY
- Next-generation sequencing applied to rare diseases genomics
- (2014) Krissi Danielsson et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy
- (2014) Caroline Nava et al. NATURE GENETICS
- Epilepsy Genetics Revolutionizes Clinical Practice
- (2014) Ingrid Scheffer NEUROPEDIATRICS
- Next-generation sequencing in childhood disorders
- (2013) Ricardo Parolin Schnekenberg et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
- (2013) Amy McTague et al. BRAIN
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits
- (2013) Francesco Miceli et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- A population-based study of newly diagnosed epilepsy in infants
- (2012) Christin M. Eltze et al. EPILEPSIA
- The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
- (2012) Stephanie Fehr et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular bases and clinical spectrum of early infantile epileptic encephalopathies
- (2012) Y. Jane Tavyev Asher et al. European Journal of Medical Genetics
- VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
- (2012) D. C. Koboldt et al. GENOME RESEARCH
- De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
- (2012) Giulia Barcia et al. NATURE GENETICS
- Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations
- (2012) Cathryn Poulton et al. NEUROGENETICS
- Clinical spectrum of SCN2A mutations
- (2011) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
- (2011) F. Kortum et al. JOURNAL OF MEDICAL GENETICS
- Rett syndrome: Revised diagnostic criteria and nomenclature
- (2010) Jeffrey L. Neul et al. ANNALS OF NEUROLOGY
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
- (2010) Jun Shen et al. NATURE GENETICS
- VarScan: variant detection in massively parallel sequencing of individual and pooled samples
- (2009) Daniel C. Koboldt et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
- (2008) Gregor D. Gilfillan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
- (2008) Francesca Ariani et al. AMERICAN JOURNAL OF HUMAN GENETICS
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started