Genetic therapeutic advancements for Dravet Syndrome

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

(2022) Andreas Brunklaus et al.   NEUROLOGY

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

(2022) Annie Tanenhaus et al.   HUMAN GENE THERAPY

Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria

(2021) Jean-Marc DeKeyser et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In vivo Genome Editing Therapeutic Approaches for Neurological Disorders: Where Are We in the Translational Pipeline?

(2021) Pablo Lubroth et al.   Frontiers in Neuroscience

A systematic review of adults with Dravet syndrome

(2021) Arunan Selvarajah et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions

(2021) Thomas Weber   Frontiers in Immunology

Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations

(2021) Lucia Mora-Jimenez et al.   Molecular Therapy-Nucleic Acids

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

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

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

(2020) Diane E. Frank et al.   NEUROLOGY

Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors

(2020) Andrew V. Anzalone et al.   NATURE BIOTECHNOLOGY

Advances in oligonucleotide drug delivery

(2020) Thomas C. Roberts et al.   NATURE REVIEWS DRUG DISCOVERY

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

Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression

(2020) Kian Huat Lim et al.   Nature Communications

Modulating gene regulation to treat genetic disorders

(2020) Navneet Matharu et al.   NATURE REVIEWS DRUG DISCOVERY

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

Genome Editing for CNS Disorders

(2020) Fábio Duarte et al.   Frontiers in Neuroscience

Rescuing AAV gene transfer from neutralizing antibodies with an IgG-degrading enzyme

(2020) Zachary C. Elmore et al.   JCI Insight

Antisense Oligonucleotide: Basic Concepts and Therapeutic Application in Inflammatory Bowel Disease

(2019) Davide Di Fusco et al.   Frontiers in Pharmacology

Nusinersen in later-onset spinal muscular atrophy

(2019) Basil T. Darras et al.   NEUROLOGY

Targeting Huntingtin Expression in Patients with Huntington’s Disease

(2019) Sarah J. Tabrizi et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2019) Joseph D Symonds et al.   BRAIN

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

(2019) Gaia Colasante et al.   MOLECULAR THERAPY

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation

(2019) Ana Ricobaraza et al.   Scientific Reports

Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome

(2019) Yosuke Niibori et al.   HUMAN GENE THERAPY

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

(2018) Iris M. de Lange et al.   EPILEPSIA

The First Approved Gene Therapy Product for Cancer Ad-p53 (Gendicine): 12 Years in the Clinic

(2018) Wei-Wei Zhang et al.   HUMAN GENE THERAPY

Gene therapy and editing: Novel potential treatments for neuronal channelopathies

(2018) R.C. Wykes et al.   NEUROPHARMACOLOGY

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tisagenlecleucel in Children and Young Adults with B-Cell Lymphoblastic Leukemia

(2018) Shannon L. Maude et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

(2018) Alexis A. Thompson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Antisense Phosphorodiamidate Morpholino Oligomers as Novel Antiviral Compounds

(2018) Yuchen Nan et al.   Frontiers in Microbiology

CRISPR/Cas9 Mediated Disruption of the Swedish APP Allele as a Therapeutic Approach for Early-Onset Alzheimer’s Disease

(2018) Bence György et al.   Molecular Therapy-Nucleic Acids

Influence of Pre-existing Anti-capsid Neutralizing and Binding Antibodies on AAV Vector Transduction

(2018) Zachary Fitzpatrick et al.   Molecular Therapy-Methods & Clinical Development

Gene therapy for neurological disorders: progress and prospects

(2018) Benjamin E. Deverman et al.   NATURE REVIEWS DRUG DISCOVERY

In utero CRISPR-mediated therapeutic editing of metabolic genes

(2018) Avery C. Rossidis et al.   NATURE MEDICINE

Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies

(2017) Jing-Qiong Kang   EPILEPSY RESEARCH

CRISPR/Cas9-mediated gene editing ameliorates neurotoxicity in mouse model of Huntington’s disease

(2017) Su Yang et al.   JOURNAL OF CLINICAL INVESTIGATION

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

(2017) Nicole M. Gaudelli et al.   NATURE

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

(2017) Carlo Rinaldi et al.   Nature Reviews Neurology

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Mechanisms of Antisense Oligonucleotides

(2017) Stanley T. Crooke   Nucleic Acid Therapeutics

In vivo genome editing improves motor function and extends survival in a mouse model of ALS

(2017) Thomas Gaj et al.   Science Advances

Mortality in Dravet syndrome: A review

(2016) Sharon Shmuely et al.   EPILEPSY & BEHAVIOR

Mortality in Dravet syndrome

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

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity

(2016) Marina Trivisano et al.   EPILEPSY RESEARCH

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome

(2016) J. Hsiao et al.   EBioMedicine

Mipomersen, an Antisense Oligonucleotide to Apolipoprotein B-100, Reduces Lipoprotein(a) in Various Populations With HypercholesterolemiaSignificance

(2015) Raul D. Santos et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

pCMV-vegf165 Intramuscular Gene Transfer is an Effective Method of Treatment for Patients With Chronic Lower Limb Ischemia

(2015) Roman V. Deev et al.   JOURNAL OF CARDIOVASCULAR PHARMACOLOGY AND THERAPEUTICS

Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development

(2015) Ming-Shian Tsai et al.   NEUROBIOLOGY OF DISEASE

From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit

(2015) Dorota Hoffman-Zacharska et al.   Neurologia i Neurochirurgia Polska

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

(2015) Ole B Suhr et al.   Orphanet Journal of Rare Diseases

Incidence of Dravet Syndrome in a US Population

(2015) Y. W. Wu et al.   PEDIATRICS

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

(2015) C. E. Nelson et al.   SCIENCE

Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype

(2014) Hao Yin et al.   NATURE BIOTECHNOLOGY

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

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

Repurposing CRISPR as an RNA-Guided Platform for Sequence-Specific Control of Gene Expression

(2013) Lei S. Qi et al.   CELL

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

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

Sudden unexpected death in a mouse model of Dravet syndrome

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

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

(2013) Pablo Perez-Pinera et al.   NATURE METHODS

Progress in gene therapy for neurological disorders

(2013) Michele Simonato et al.   Nature Reviews Neurology

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy

(2013) Natalia N. Singh et al.   NUCLEIC ACIDS RESEARCH

Cognitive and Social Impairment in Mouse Models Mirrors Dravet Syndrome

(2013) Jennifer A. Kearney   Epilepsy Currents

Sudden Unexpected Death in Dravet Syndrome

(2013) Jennifer Kearney   Epilepsy Currents

Lessons Learned from the Clinical Development and Market Authorization of Glybera

(2013) Laura M. Bryant et al.   Human Gene Therapy Clinical Development

Lentiviral vectors: basic to translational

(2012) Toshie Sakuma et al.   BIOCHEMICAL JOURNAL

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

(2012) A. Brunklaus et al.   BRAIN

A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome

(2012) Ikuo Ogiwara et al.   EPILEPSIA

SCN1A mutations in Dravet syndrome: Impact of interneuron dysfunction on neural networks and cognitive outcome

(2012) Alex C. Bender et al.   EPILEPSY & BEHAVIOR

Dravet syndrome: The main issues

(2012) Renzo Guerrini   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

(2012) Sung Han et al.   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

Cognitive and behavioral characteristics of children with Dravet syndrome: An overview

(2011) Francesco Guzzetta   EPILEPSIA

Mortality in Dravet syndrome: Search for risk factors in Japanese patients

(2011) Masako Sakauchi et al.   EPILEPSIA

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system

(2011) Ahad A. Rahim et al.   FASEB JOURNAL

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Preclinical Differences of Intravascular AAV9 Delivery to Neurons and Glia: A Comparative Study of Adult Mice and Nonhuman Primates

(2011) Steven J Gray et al.   MOLECULAR THERAPY

Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood–Brain Barrier Gene Delivery

(2011) Haiyan Fu et al.   MOLECULAR THERAPY

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

(2010) Renzo Guerrini et al.   EPILEPSIA

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

(2010) Christel Depienne et al.   HUMAN MUTATION

Altered Function of theSCN1AVoltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities

(2010) Melinda S. Martin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

(2009) Ingrid E. Scheffer et al.   BRAIN & DEVELOPMENT

ParentalSCN1Amutation mosaicism in familial Dravet syndrome

(2009) KK Selmer et al.   CLINICAL GENETICS

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

(2009) G. A. Patino et al.   JOURNAL OF NEUROSCIENCE

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

(2009) Maria Kinali et al.   LANCET NEUROLOGY

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

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection

(2008) Carmela Zincarelli et al.   MOLECULAR THERAPY