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Early mortality in STXBP1-related disorders.

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Title: Early mortality in STXBP1-related disorders.
Authors: Furia, Francesca (AUTHOR), Rigby, Charlene Son (AUTHOR), Scheffer, Ingrid E. (AUTHOR), Allen, Nicholas (AUTHOR), Baker, Kate (AUTHOR), Hengsbach, Christian (AUTHOR), Kegele, Josua (AUTHOR), Goss, James (AUTHOR), Gorman, Kathleen (AUTHOR), Mala, Misra-Isrie (AUTHOR), Nicita, Francesco (AUTHOR), Allan, Talia (AUTHOR), Spalice, Alberto (AUTHOR), Weber, Yvonne (AUTHOR), Balagura, Ganna (AUTHOR), Benzeev, Bruria (AUTHOR), Bruining, Hilgo (AUTHOR), Darling, Alejandra (AUTHOR), Cazorla, Ángeles García (AUTHOR), Milh, Mathieu (AUTHOR)
Source: Neurological Sciences. Mar2025, Vol. 46 Issue 3, p1339-1347. 9p.
Subjects: Sudden death, Medical sciences, Lung infections, Early death, Genetic counseling, Cause of death statistics
Abstract: Introduction: Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders. Methods: Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease. Results: We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months—46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018). Conclusion: 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. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Early mortality in STXBP1-related disorders.
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  Data: <searchLink fieldCode="AR" term="%22Furia%2C+Francesca%22">Furia, Francesca</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rigby%2C+Charlene+Son%22">Rigby, Charlene Son</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Scheffer%2C+Ingrid+E%2E%22">Scheffer, Ingrid E.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Allen%2C+Nicholas%22">Allen, Nicholas</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Baker%2C+Kate%22">Baker, Kate</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hengsbach%2C+Christian%22">Hengsbach, Christian</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kegele%2C+Josua%22">Kegele, Josua</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Goss%2C+James%22">Goss, James</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gorman%2C+Kathleen%22">Gorman, Kathleen</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mala%2C+Misra-Isrie%22">Mala, Misra-Isrie</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nicita%2C+Francesco%22">Nicita, Francesco</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Allan%2C+Talia%22">Allan, Talia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spalice%2C+Alberto%22">Spalice, Alberto</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Weber%2C+Yvonne%22">Weber, Yvonne</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Balagura%2C+Ganna%22">Balagura, Ganna</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Benzeev%2C+Bruria%22">Benzeev, Bruria</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bruining%2C+Hilgo%22">Bruining, Hilgo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Darling%2C+Alejandra%22">Darling, Alejandra</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cazorla%2C+Ángeles+García%22">Cazorla, Ángeles García</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Milh%2C+Mathieu%22">Milh, Mathieu</searchLink> (AUTHOR)
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  Data: Introduction: Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting of developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs in individuals with drug-resistant epilepsy and DEE, with sudden unexpected death in epilepsy (SUDEP) often the major cause of death. This study aimed to identify the rate and causes of mortality in STXBP1-related disorders. Methods: Through an international call, we analyzed data on individuals with STXBP1 pathogenic variants, who passed away from causes related to their disease. Results: We estimated a mortality rate of 3.2% (31/966), based on the STXBP1 Foundation and the STXBP1 Global Connect registry. In total, we analyzed data on 40 individuals (23 males) harboring pathogenic STXBP1 variants, collected from different centers worldwide. They died at a median age of 13 years (range: 11 months—46 years). The most common cause of death was SUDEP (36%), followed by pulmonary infections and respiratory complications (33%). The incidence of SUDEP peaked in mid-childhood, while non-SUDEP causes were more frequent in early childhood or adulthood (p = 0.006). In the most severe phenotypes, death was related to non-SUDEP causes (p = 0.018). Conclusion: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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