Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

Seizures in Mouse Models of Rare Neurodevelopmental Disorders

(2020) Merrick S. Fallah et al.   NEUROSCIENCE

X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder

(2020) Barbara Terzic et al.   NEUROBIOLOGY OF DISEASE

A distal super enhancer mediates estrogen-dependent mouse uterine–specific gene transcription of Insulin-like growth factor 1 (Igf1)

(2019) Sylvia C Hewitt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Influence of common SCN1A promoter variants on the severity of SCN1A ‐related phenotypes

(2019) Iris M. Lange et al.   Molecular Genetics & Genomic Medicine

Hippocampal deletion of NaV1.1 channels in mice causes thermal seizures and cognitive deficit characteristic of Dravet Syndrome

(2019) Rachael E. Stein et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanisms underlying the EEG biomarker in Dup15q syndrome

(2019) Joel Frohlich et al.   Molecular Autism

dCas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice

(2019) Gaia Colasante et al.   MOLECULAR THERAPY

Genetic backgrounds have unique seizure response profiles and behavioral outcomes following convulsant administration

(2019) Nycole Ashley Copping et al.   EPILEPSY & BEHAVIOR

Interhemispheric alpha-band hypoconnectivity in children with autism spectrum disorder

(2018) Abigail Dickinson et al.   BEHAVIOURAL BRAIN RESEARCH

Ultraconserved Enhancers Are Required for Normal Development

(2018) Diane E. Dickel et al.   CELL

Deletion of a Long-RangeDlx5Enhancer Disrupts Inner Ear Development in Mice

(2018) Kenneth R. Johnson et al.   GENETICS

An atlas of chromatin accessibility in the adult human brain

(2018) John F. Fullard et al.   GENOME RESEARCH

Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome

(2018) Anna Adhikari et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

Genomic Knockout of Two Presumed Forelimb Tbx5 Enhancers Reveals They Are Nonessential for Limb Development

(2018) Thomas J. Cunningham et al.   Cell Reports

Deletion of a Long-RangeDlx5Enhancer Disrupts Inner Ear Development in Mice

(2018) Kenneth R. Johnson et al.   GENETICS

Gene expression profiling in a mouse model of Dravet syndrome

(2018) Nicole A. Hawkins et al.   EXPERIMENTAL NEUROLOGY

Comprehensive functional genomic resource and integrative model for the human brain

(2018) Daifeng Wang et al.   SCIENCE

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

(2018) Navneet Matharu et al.   SCIENCE

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

(2018)   Nature Communications

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome

(2017) Nycole A Copping et al.   HUMAN MOLECULAR GENETICS

Early motor phenotype detection in a female mouse model of Rett syndrome is improved by cross-fostering

(2017) Annie Vogel Ciernia et al.   HUMAN MOLECULAR GENETICS

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

(2017) Michael S. Sidorov et al.   Journal of Neurodevelopmental Disorders

Alternative TSSs are co‐regulated in single cells in the mouse brain

(2017) Kasper Karlsson et al.   Molecular Systems Biology

Germline Chd8 haploinsufficiency alters brain development in mouse

(2017) Andrea L Gompers et al.   NATURE NEUROSCIENCE

Translational use of event-related potentials to assess circuit integrity in ASD

(2017) Meera E. Modi et al.   Nature Reviews Neurology

Touch-screen visual reversal learning is mediated by value encoding and signal propagation in the orbitofrontal cortex

(2017) Kristin Marquardt et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

Touchscreen learning deficits and normal social approach behavior in the Shank3B model of Phelan–McDermid Syndrome and autism

(2017) Nycole A. Copping et al.   NEUROSCIENCE

Alternative start and termination sites of transcription drive most transcript isoform differences across human tissues

(2017) Alejandro Reyes et al.   NUCLEIC ACIDS RESEARCH

Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

(2017) Sameer C. Dhamne et al.   Molecular Autism

Treatment of Dravet Syndrome

(2016) Elaine C. Wirrell   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Mortality in Dravet syndrome: A review

(2016) Sharon Shmuely et al.   EPILEPSY & BEHAVIOR

A Point Mutation in SCN1A 5′ Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by Antiepileptic Drug

(2016) Qu-Wen Gao et al.   MOLECULAR NEUROBIOLOGY

A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome

(2016) Joel Frohlich et al.   PLoS One

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome

(2016) Anthony D. Schmitt et al.   Cell Reports

EEG biomarkers of target engagement, therapeutic effect, and disease process

(2015) Robert E. Featherstone et al.   Annals of the New York Academy of Sciences

Dissecting the phenotypes of Dravet syndrome by gene deletion

(2015) Moran Rubinstein et al.   BRAIN

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks

(2015) M. Yang et al.   LEARNING & MEMORY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Epigenome editing by a CRISPR-Cas9-based acetyltransferase activates genes from promoters and enhancers

(2015) Isaac B Hilton et al.   NATURE BIOTECHNOLOGY

The PsychENCODE project

(2015) Schahram Akbarian et al.   NATURE NEUROSCIENCE

Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome

(2015) Moran Rubinstein et al.   NEUROBIOLOGY OF DISEASE

Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain

(2015) Alisa Mo et al.   NEURON

GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of Autism

(2015) J L Silverman et al.   NEUROPSYCHOPHARMACOLOGY

Behavioral assessment of NIH Swiss mice acutely intoxicated with tetramethylenedisulfotetramine

(2015) Brenna M. Flannery et al.   NEUROTOXICOLOGY AND TERATOLOGY

Alternative mRNA transcription, processing, and translation: insights from RNA sequencing

(2015) Eleonora de Klerk et al.   TRENDS IN GENETICS

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

A promoter-level mammalian expression atlas

(2014)   NATURE

Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome

(2014) C. Tai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome

(2013) Christine S Cheah et al.   Channels

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome

(2013) A. R. Miller et al.   GENES BRAIN AND BEHAVIOR

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome

(2013) Ikuo Ogiwara et al.   HUMAN MOLECULAR GENETICS

The SCN1A gene variants and epileptic encephalopathies

(2013) Rashmi Parihar et al.   JOURNAL OF HUMAN GENETICS

Chromatin connectivity maps reveal dynamic promoter–enhancer long-range associations

(2013) Yubo Zhang et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Characterization of seizure-like events recorded in vivo in a mouse model of Rett syndrome

(2013) Sinisa Colic et al.   NEURAL NETWORKS

Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions

(2013) Franck Kalume   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

RSeQC: quality control of RNA-seq experiments

(2012) Liguo Wang et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Extensive Promoter-Centered Chromatin Interactions Provide a Topological Basis for Transcription Regulation

(2012) Guoliang Li et al.   CELL

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility

(2012) Stacey B. Dutton et al.   NEUROBIOLOGY OF DISEASE

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

(2012) C. S. Cheah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Genome-wide characterization of transcriptional start sites in humans by integrative transcriptome analysis

(2011) R. Yamashita et al.   GENOME RESEARCH

Working memory deficits, increased anxiety-like traits, and seizure susceptibility in BDNF overexpressing mice

(2011) F. Papaleo et al.   LEARNING & MEMORY

Sociability and motor functions in Shank1 mutant mice

(2010) Jill L. Silverman et al.   BRAIN RESEARCH

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

(2010) Tojo Nakayama et al.   HUMAN MUTATION

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

TheSCN1Avariant database: a novel research and diagnostic tool

(2009) Lieve RF Claes et al.   HUMAN MUTATION

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

(2009) J. C. Oakley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NovelSCN1Aframeshift mutation with absence of truncated NaV1.1 protein in severe myoclonic epilepsy of infancy

(2008) Erin J. McArdle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Identification of the promoter region and the 5′-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5′-untranslated exons

(2008) Yue-Sheng Long et al.   JOURNAL OF NEUROSCIENCE RESEARCH

The functional consequences of alternative promoter use in mammalian genomes

(2008) Ramana V. Davuluri et al.   TRENDS IN GENETICS