Cell-selective AAV-mediated <i>SCN1A </i>Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model and is Well Tolerated in Non-human Primates

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

(2022) Nicholas Valassina et al.   Nature Communications

Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy

(2021) Jerry R. Mendell et al.   JAMA Neurology

Targeted Augmentation of Nuclear Gene Output (TANGO) of Scn1a rescues parvalbumin interneuron excitability and reduces seizures in a mouse model of Dravet Syndrome

(2021) Eric R. Wengert et al.   BRAIN RESEARCH

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

(2020) Guy M. Lenk et al.   ANNALS OF NEUROLOGY

CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice

(2020) Tetsushi Yamagata et al.   NEUROBIOLOGY OF DISEASE

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy

(2020) Thomas J. Turner et al.   JOURNAL OF NEUROCHEMISTRY

Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome

(2020) Zhou Han et al.   Science Translational Medicine

Adeno-associated virus vector as a platform for gene therapy delivery

(2019) Dan Wang et al.   NATURE REVIEWS DRUG DISCOVERY

SCN1A gain of function in early infantile encephalopathy

(2019) Géza Berecki et al.   ANNALS OF NEUROLOGY

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

(2019) Joseph D Symonds et al.   BRAIN

From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1

(2019) Samiah A. Al-Zaidy et al.   PEDIATRIC NEUROLOGY

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

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

(2019) Gaia Colasante et al.   MOLECULAR THERAPY

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

(2018) Tetsuya Tatsukawa et al.   NEUROBIOLOGY OF DISEASE

A general and flexible method for signal extraction from single-cell RNA-seq data

(2018) Davide Risso et al.   Nature Communications

A MicroRNA-Based Gene-Targeting Tool for Virally Labeling Interneurons in the Rodent Cortex

(2018) Marianna K. Keaveney et al.   Cell Reports

Dravet syndrome: Characteristics, comorbidities, and caregiver concerns

(2017) Nicole Villas et al.   EPILEPSY & BEHAVIOR

How introns enhance gene expression

(2017) Orit Shaul   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The Encyclopedia of DNA elements (ENCODE): data portal update

(2017) Carrie A Davis et al.   NUCLEIC ACIDS RESEARCH

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel

(2017) Elaine C. Wirrell et al.   PEDIATRIC NEUROLOGY

Intracerebroventricular Delivery as a Safe, Long-Term Route of Drug Administration

(2017) Jessica L. Cohen-Pfeffer et al.   PEDIATRIC NEUROLOGY

Screening of conventional anticonvulsants in a genetic mouse model of epilepsy

(2017) Nicole A. Hawkins et al.   Annals of Clinical and Translational Neurology

Mortality in Dravet syndrome

(2016) Monica S. Cooper et al.   EPILEPSY RESEARCH

Expressing Transgenes That Exceed the Packaging Capacity of Adeno-Associated Virus Capsids

(2016) Kyle Chamberlain et al.   Human Gene Therapy Methods

Redefining the cerebellar cortex as an assembly of non-uniform Purkinje cell microcircuits

(2015) Nadia L. Cerminara et al.   NATURE REVIEWS NEUROSCIENCE

Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain

(2015) Alisa Mo et al.   NEURON

ENCODE data at the ENCODE portal

(2015) Cricket A. Sloan et al.   NUCLEIC ACIDS RESEARCH

Synthetic Zinc Finger Proteins: The Advent of Targeted Gene Regulation and Genome Modification Technologies

(2014) Charles A. Gersbach et al.   ACCOUNTS OF CHEMICAL RESEARCH

Biodistribution of adeno-associated virus serotype 9 (AAV9) vector after intrathecal and intravenous delivery in mouse

(2014) Daniel J. Schuster et al.   Frontiers in Neuroanatomy

Hippocampal hyperexcitability and specific epileptiform activity in a mouse model of Dravet syndrome

(2013) Camille Liautard et al.   EPILEPSIA

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

Sudden unexpected death in a mouse model of Dravet syndrome

(2013) Franck Kalume et al.   JOURNAL OF CLINICAL INVESTIGATION

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

(2013) Rima Nabbout et al.   Orphanet Journal of Rare Diseases

A human Dravet syndrome model from patient induced pluripotent stem cells

(2013) Norimichi Higurashi et al.   Molecular Brain

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

(2012) A. Brunklaus et al.   BRAIN

Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment

(2012) Helene Vacher et al.   EPILEPSIA

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment

(2012) Susumu Ito 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

Neocortical excitation/inhibition balance in information processing and social dysfunction

(2011) Ofer Yizhar et al.   NATURE

Glutamatergic pre-ictal discharges emerge at the transition to seizure in human epilepsy

(2011) Gilles Huberfeld et al.   NATURE NEUROSCIENCE

The contribution of GABAergic dysfunction to neurodevelopmental disorders

(2011) Kartik Ramamoorthi et al.   TRENDS IN MOLECULAR MEDICINE

Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders

(2011) E. Rossignol   NEURAL PLASTICITY

Scn1a missense mutation impairs GABAA receptor-mediated synaptic transmission in the rat hippocampus

(2010) Yukihiro Ohno et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

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