Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

(2018) John Hoon Rim et al.   BMC Medical Genomics

Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy

(2018) Ara Ko et al.   EPILEPSY RESEARCH

Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies

(2018) P. Zhou et al.   GENES BRAIN AND BEHAVIOR

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

(2017) Genay O Pilarowski et al.   JOURNAL OF MEDICAL GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Assembly of functionally integrated human forebrain spheroids

(2017) Fikri Birey et al.   NATURE

Chd2 regulates chromatin for proper gene expression toward differentiation in mouse embryonic stem cells

(2017) Yuichiro Semba et al.   NUCLEIC ACIDS RESEARCH

Regulatory networks specifying cortical interneurons from human embryonic stem cells reveal roles for CHD2 in interneuron development

(2017) Kesavan Meganathan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Histone deacetylases inhibitors (HDACis) as novel therapeutic application in various clinical diseases

(2017) Xiaoyan Qiu et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Photosensitivity and epilepsy: Current concepts and perspectives—A narrative review

(2017) A. Martins da Silva et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Opposing Phenotypes in Dravet Syndrome Patient-Derived Induced Pluripotent Stem Cell Neurons: Can Everyone Be Right?

(2017) Lori L. Isom   Epilepsy Currents

Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

(2017) Yimin Wang et al.   Scientific Reports

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

(2016) Karin Weiss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation

(2016) Anna Maria Pinto et al.   BRAIN & DEVELOPMENT

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining

(2016) Martijn S. Luijsterburg et al.   MOLECULAR CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Autism and Cancer Share Risk Genes, Pathways, and Drug Targets

(2016) Jacqueline N. Crawley et al.   TRENDS IN GENETICS

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression

(2016) Vito Alessandro Lasorsa et al.   Oncotarget

Functions of PARylation in DNA Damage Repair Pathways

(2016) Huiting Wei et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Mutations in CHD2 cause defective association with active chromatin in chronic lymphocytic leukemia

(2015) D. Rodriguez et al.   BLOOD

CHD2variants are a risk factor for photosensitivity in epilepsy

(2015) Elizabeth C. Galizia et al.   BRAIN

Morpholinos: Antisense and Sensibility

(2015) Martin Blum et al.   DEVELOPMENTAL CELL

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic–atonic seizures

(2015) Marina Trivisano et al.   EPILEPSY & BEHAVIOR

Altered neuronal network and rescue in a human MECP2 duplication model

(2015) S Nageshappa et al.   MOLECULAR PSYCHIATRY

Proliferation control in neural stem and progenitor cells

(2015) Catarina C. F. Homem et al.   NATURE REVIEWS NEUROSCIENCE

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

(2015) R. H. Thomas et al.   NEUROLOGY

Database resources of the National Center for Biotechnology Information

(2015)   NUCLEIC ACIDS RESEARCH

CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex

(2015) Tianjin Shen et al.   STEM CELLS

Transcription-coupled recruitment of human CHD1 and CHD2 influences chromatin accessibility and histone H3 and H3.3 occupancy at active chromatin regions

(2015) Lee Siggens et al.   Epigenetics & Chromatin

Advancing epilepsy genetics in the genomic era

(2015) Candace T. Myers et al.   Genome Medicine

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

Neurogenesis during development of the vertebrate central nervous system

(2014) J. T. Paridaen et al.   EMBO REPORTS

CHD2 mutations in Lennox–Gastaut syndrome

(2014) Caroline Lund et al.   EPILEPSY & BEHAVIOR

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity

(2014) Carolina Courage et al.   European Journal of Medical Genetics

Human CHD2 Is a Chromatin Assembly ATPase Regulated by Its Chromo- and DNA-binding Domains

(2014) Jessica C. Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

(2013) Arvid Suls et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcription Recovery after DNA Damage Requires Chromatin Priming by the H3.3 Histone Chaperone HIRA

(2013) Salomé Adam et al.   CELL

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Neuronal conditional knockout of NRSF decreases vulnerability to seizures induced by pentylenetetrazol in mice

(2012) M. Liu et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Chd2 interacts with H3.3 to determine myogenic cell fate

(2012) Akihito Harada et al.   EMBO JOURNAL

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

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

The Allen Human Brain Atlas

(2012) Elaine H. Shen et al.   TRENDS IN NEUROSCIENCES

Conditional Deletion of NRSF in Forebrain Neurons Accelerates Epileptogenesis in the Kindling Model

(2011) Xiao-Ling Hu et al.   CEREBRAL CORTEX

Tangential migration and proliferation of intermediate progenitors of GABAergic neurons in the mouse telencephalon

(2011) S. Wu et al.   DEVELOPMENT

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

Identification of novel CHD1-associated collaborative alterations of genomic structure and functional assessment of CHD1 in prostate cancer

(2011) W Liu et al.   ONCOGENE

Microdeletion of Chromosome 15q26.1 in a Child With Intractable Generalized Epilepsy

(2011) Radhika Dhamija et al.   PEDIATRIC NEUROLOGY

Controversies in epilepsy: Debates held during the Fourth International Workshop on Seizure Prediction

(2010) Mark G. Frei et al.   EPILEPSY & BEHAVIOR

Dlx5 and Dlx6 Regulate the Development of Parvalbumin-Expressing Cortical Interneurons

(2010) Y. Wang et al.   JOURNAL OF NEUROSCIENCE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Dynamic epigenetic regulation in neurons: enzymes, stimuli and signaling pathways

(2010) Antonella Riccio   NATURE NEUROSCIENCE

Epigenetic control of neural precursor cell fate during development

(2010) Yusuke Hirabayashi et al.   NATURE REVIEWS NEUROSCIENCE

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

(2009) Eric Marsh et al.   BRAIN

ATP-dependent chromatin remodeling in neural development

(2009) Andrew S Yoo et al.   CURRENT OPINION IN NEUROBIOLOGY

Early onset myoclonic epilepsy and 15q26 microdeletion: Observation of the first case

(2009) Chiara Veredice et al.   EPILEPSIA

A Mutation in the Mouse Chd2 Chromatin Remodeling Enzyme Results in a Complex Renal Phenotype

(2009) Concetta G.A. Marfella et al.   KIDNEY & BLOOD PRESSURE RESEARCH

Role of chromodomain helicase DNA-binding protein 2 in DNA damage response signaling and tumorigenesis

(2009) P Nagarajan et al.   ONCOGENE

A Primer for Morpholino Use in Zebrafish

(2009) Brent R. Bill et al.   Zebrafish

Characterization of a cryptic 3.3 Mb deletion in a patient with a “balanced t(15;22) translocation” using high density oligo array CGH and gene expression arrays

(2008) Marilyn M. Li et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis

(2008) Shashikant Kulkarni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Controlling morpholino experiments: don't stop making antisense

(2008) J. S. Eisen et al.   DEVELOPMENT

Decoding the Epigenetic Language of Neuronal Plasticity

(2008) Emiliana Borrelli et al.   NEURON

The Requirement of Nkx2-1 in the Temporal Specification of Cortical Interneuron Subtypes

(2008) Simon J.B. Butt et al.   NEURON