Early mortality in STXBP1-related disorders
We found a mortality rate in STXBP1-related disorders similar to other DEEs, with an early age at death and SUDEP as well as pulmonary infections as the main cause of death. These findings assist in prognostic evaluation and genetic counseling for the families. They help to define the mortality risk of STXBP1-related disorders and implement preventative strategies.
Authors
- Charlene Son Rigby (ORCID: https://orcid.org/0000-0001-8627-996X)
- Francesco Nicita (ORCID: https://orcid.org/0000-0002-5612-821X)
- Francesca Furia (ORCID: https://orcid.org/0000-0002-4893-9768)
- Josua Kegele (ORCID: https://orcid.org/0000-0002-0126-7466)
- Alberto Spalice (ORCID: https://orcid.org/0000-0002-8455-796X)
- Ingrid Eileen Scheffer (ORCID: https://orcid.org/0000-0002-2311-2174)
- Nicholas M. Allen (ORCID: https://orcid.org/0000-0002-8678-7507)
- Christian Hengsbach
- Yvonne Weber (ORCID: https://orcid.org/0000-0002-0806-5592)
- Kate Baker (ORCID: https://orcid.org/0000-0003-2986-0584)
- James Goss (ORCID: https://orcid.org/0000-0002-7376-8059)
- Kathleen S. Gorman
- Misra-Isrie Mala
- Talia Allan
Institutions
- University College Dublin (IE)
- University of Copenhagen (DK)
- Royal Children's Hospital (AU)
- The University of Melbourne (AU)
- University of Southern Denmark (DK)
- Ollscoil na Gaillimhe – University of Galway (IE)
- MRC Cognition and Brain Sciences Unit (GB)
- Children's Health Ireland at Crumlin (IE)
- Bambino Gesù Children's Hospital (IT)
- Hertie Institute for Clinical Brain Research (DE)
- Epilepsy Action (GB)
- Filadelfia (DK)
- Austin Health (AU)
- University of Tübingen (DE)
- Sapienza University of Rome (IT)
- RWTH Aachen University (DE)
Publication Details
- Journal
- Neurological Sciences
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1007/s10072-024-07783-3
- Citations
- 1
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Syddansk Universitet
- Medical Research Council