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

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

(2020) Kian Huat Lim et al.   Nature Communications

SCN1A gain of function in early infantile encephalopathy

(2019) Géza Berecki et al.   ANNALS OF NEUROLOGY

Stiripentol: A Novel Antiseizure Medication for the Management of Dravet Syndrome

(2019) Marcia L. Buck et al.   ANNALS OF PHARMACOTHERAPY

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

(2019) Gaia Colasante et al.   MOLECULAR THERAPY

Chronic Toxicity Assessment of 2′-O-Methoxyethyl Antisense Oligonucleotides in Mice

(2018) Thomas A. Zanardi et al.   Nucleic Acid Therapeutics

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

(2018) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Emerging drugs for the treatment of Dravet syndrome

(2018) Francesco Brigo et al.   EXPERT OPINION ON EMERGING DRUGS

Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

(2017) Jeffrey D. Calhoun et al.   EPILEPSIA

Cannabinoids in treatment-resistant epilepsy: A review

(2017) Brooke K. O'Connell et al.   EPILEPSY & BEHAVIOR

Nonintegrating Gene Therapy Vectors

(2017) Takis Athanasopoulos et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Oligonucleotide therapies for disorders of the nervous system

(2017) Olga Khorkova et al.   NATURE BIOTECHNOLOGY

Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy

(2017) David R Corey   NATURE NEUROSCIENCE

Not all SCN1A epileptic encephalopathies are Dravet syndrome

(2017) Lynette G. Sadleir et al.   NEUROLOGY

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

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

From genotype to phenotype in Dravet disease

(2017) Svetlana Gataullina et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Mortality in Dravet syndrome

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

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq

(2016) Nicole A. Hawkins et al.   PLoS Genetics

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

(2015) Heng Meng et al.   HUMAN MUTATION

Incidence of Dravet Syndrome in a US Population

(2015) Y. W. Wu et al.   PEDIATRICS

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

(2015) Xavier Gérard et al.   Molecular Therapy-Nucleic Acids

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

(2014) Akshitkumar M. Mistry et al.   NEUROBIOLOGY OF DISEASE

Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later

(2011) Charlotte Dravet et al.   EPILEPSIA

Dravet syndrome and parent associations: The IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief

(2011) Joan V. Skluzacek et al.   EPILEPSIA

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

TheSCN1Avariant database: a novel research and diagnostic tool

(2009) Lieve RF Claes et al.   HUMAN MUTATION