A disease concept model for <i>STXBP1</i> ‐related disorders

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Authors

Katie Rose Sullivan · Children's Hospital of Philadelphia

Sarah M. Ruggiero · Children's Hospital of Philadelphia

Julie Xian · Children's Hospital of Philadelphia

Kim Marie Thalwitzer · Children's Hospital of Philadelphia

Rahma Ali · Children's Hospital of Philadelphia

Sydni Stewart · Children's Hospital of Philadelphia

Mahgenn Cosico

Abstract

STXBP1-related disorders are complex conditions affecting a wide range of clinical and social domains. We comprehensively mapped symptoms and their impact on families to generate a comprehensive disease model as a foundation for clinical endpoints in future trials.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Autism Spectrum Disorder Research Genomics and Rare Diseases

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Epilepsia Open

Volume 8, Issue 2, pp. 320-333

DOI: 10.1002/epi4.12688

Field-Weighted Citation Impact: 7.22

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