Select Publications and Presentations

Global Needs of Children and Families Living with SCN1A-positive Dravet Syndrome: Gaps in Access to Diagnosis and Care

ETX101: A potential one-time, disease-modifying gene regulation therapy targeting the underlying cause of SCN1A+ Dravet syndrome

Fine and Gross Motor Functioning in Young Children with SCN1A+ Dravet Syndrome Participating in the ENVISION Study, an International, Prospective Natural History

Cognitive and Executive Functioning Difficulties in Young Children with SCN1A+ Dravet Syndrome Participating in the ENVISION Study, an International, Prospective Natural History

Longitudinal Assessment of Quality of Life in Caregivers and Young Children with SCN1A+ Dravet Syndrome Participating in the ENVISION Study, an International, Prospective Natural History

Seizure Burden and Communication Issues in Young Children with SCN1A+ Dravet Syndrome Participating in the ENVISION Study, an International, Prospective Natural History

Decoding Dravet Syndrome: The Role of Advanced EEG Analytics in Phenotypin

The ENVISION Study, an International, Prospective Natural History Study in Young Children with SCN1A+ Dravet Syndrome, 18 Month Follow-up

Behavior, social-emotional, and sleep difficulties in young children with SCN1A+ Dravet Syndrome Participating in the ENVISION study, an international, prospective natural history study

The ENVISION Study, an international, prospective natural history study in young children with SCN1A+ Dravet syndrome, 18-month follow-up

The ENVISION Study, an international, prospective natural history study in young children with SCN1A+ Dravet syndrome

The ENVISION Study, an International, Prospective Natural History Study in Young Children with SCN1A+ Dravet Syndrome

ENVISION: An International, Prospective Natural History Study in Young Children with SCN1A+ Dravet Syndrome

Molecular Diagnostic and Phenotypic Findings in Individuals With SCN1A-Related Disease Identified Through a Sponsored, No-Charge Epilepsy Genetic Testing Program

A Patient-Oriented Approach to Integrating Families’ Experiences in Clinical Trials Design and Clinical Care for Dravet Syndrome

DRAVET ENGAGE. Parent Caregivers of Children with Dravet Syndrome: Perspectives, Needs, and Opportunities for Clinical Research

The Clinical, Economic, and Humanistic Burden of Dravet Syndrome — A Systematic Literature Review

ETX101, a GABAergic Interneuron Selective AAV-mediated Gene Therapy for Treatment of SCN1A+ Dravet Syndrome: Biodistribution and Safety in Non-human Primates

Reducing the time to diagnosis and increasing the detection of individuals with SCN1A-related disease through a sponsored epilepsy genetic testing program

From Gene Replacement to Gene Regulation: Developing a Disease-Modifying AAV Gene Therapy Vector for SCN1A-Positive (SCN1A+) Dravet Syndrome

Proposed Design for a Natural History Study of SCN1A-Positive (SCN1A+) Dravet Syndrome

A GABA-Selective AAV Vector-Based Approach to Up-Regulate Endogenous Scn1a Expression Reverses Key Phenotypes in a Mouse Model of Dravet Syndrome

ETX201: An AAV9-based Vectorized miRNA Therapeutic Candidate for Angelman Syndrome

Potent and Specific AAV9-miRNA Candidates Demonstrate Robust Reduction of Microtubule-associated Protein Tau (MAPT) in Non-Human Primates

Developing an AAV-based Gene Therapy for Chronic Pain Through Identification of Potent and Selective Artificial miRNA Candidates to Knockdown SCN9A

ETX201: An experimental vectorized miRNA-based approach for the treatment of Angelman syndrome

A Vectorized miRNA-based Approach to Unsilence UBE3A in Angelman Syndrome

Identification of Potent and Selective AAV-miRNA Candidates to Knockdown Non-Monogenic Neurological Targets SCN9A (Pain) and MAPT (Tauopathies)

Advancing Gene Therapy for STXBP1-related Disorders Through Targeted Vector Engineering: Efficacy and Safety Results in Mice and Non-Human Primates

GABA Selective AAV-mediated Gene Therapy Provides Durable Seizure Protection in Multiple Refractory Epilepsy Models

A Vectorized miRNA-based Approach to Unsilence UBE3A in Angelman Syndrome

Optimized Human Genomic Regulatory Elements Achieve DRG-selective De-targeting in Non-human Primates and Reduce Off-Target Toxicity in AAV Gene Therapies

Optimized human regulatory sequences achieve targeted expression in brain and decreased off-target liver and dorsal root ganglion expression

Optimized Human Regulatory Sequences Achieve Targeted Expression in CNS and Decreased Liver Expression in Mice

Efficient Delivery of Clinically-Validated Adeno-Associated Viral (AAV) Vectors to the Central Nervous System: A Systematic Evaluation of Multiple Routes of Administration and Viral Serotypes in Cynomolgus Macaques