Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
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Title
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Authors
Keywords
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Journal
NATURE GENETICS
Volume 45, Issue 7, Pages 825-830
Publisher
Springer Nature
Online
2013-05-27
DOI
10.1038/ng.2646
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Note: Only part of the references are listed.- Clinical genetic study of the epilepsy-aphasia spectrum
- (2013) Meng-Han Tsai et al. EPILEPSIA
- 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
- Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
- (2012) Gaelle Thierry et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype
- (2012) N Hoppman-Chaney et al. CLINICAL GENETICS
- Sodium channels and the neurobiology of epilepsy
- (2012) Megan Oliva et al. EPILEPSIA
- Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
- (2012) Martin H. Berryer et al. HUMAN MUTATION
- A genetic diagnostic approach to infantile epileptic encephalopathies
- (2012) Benjamin A. Kamien et al. JOURNAL OF CLINICAL NEUROSCIENCE
- 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
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
- (2012) Sarah E Heron et al. NATURE GENETICS
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders
- (2012) K. Bouazoune et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
- (2011) Fadi F. Hamdan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
- (2011) Michael E. Talkowski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans
- (2011) Hirotaka Tao et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare copy number variants are an important cause of epileptic encephalopathies
- (2011) Heather C. Mefford et al. ANNALS OF NEUROLOGY
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
- (2011) Sarah Weckhuysen et al. ANNALS OF NEUROLOGY
- De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism
- (2011) Fadi F. Hamdan et al. BIOLOGICAL PSYCHIATRY
- Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
- (2011) Leonardo P. Capelli et al. European Journal of Medical Genetics
- Mutationsde novodeSYNGAP1associées à la déficience intellectuelle non syndromique
- (2011) Fadi F. Hamdan et al. M S-MEDECINE SCIENCES
- Microdeletion of Chromosome 15q26.1 in a Child With Intractable Generalized Epilepsy
- (2011) Radhika Dhamija et al. PEDIATRIC NEUROLOGY
- Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype
- (2011) Mario Mastrangelo et al. PEDIATRIC NEUROLOGY
- Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
- (2010) Erin L. Heinzen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
- (2010) Anne T. Berg et al. EPILEPSIA
- Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
- (2010) Markus Zweier et al. HUMAN MUTATION
- Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
- (2010) Jun Shen et al. NATURE GENETICS
- Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- (2010) Sabine Endele et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
- (2010) Heather C. Mefford et al. PLoS Genetics
- NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions
- (2009) Cristina Camprubí et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- De novo mutations of voltage-gated sodium channel II gene SCN2A in intractable epilepsies
- (2009) I. Ogiwara et al. NEUROLOGY
- Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation
- (2009) Fadi F. Hamdan et al. NEW ENGLAND JOURNAL OF MEDICINE
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