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Page 1
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Free article. Review.
OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. ...RESULTS: We describe the phenotypic features of 147 patients with …
OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by syst …
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D, Guiberson NGL, Burré J. Abramov D, et al. J Neurochem. 2021 Apr;157(2):165-178. doi: 10.1111/jnc.15120. Epub 2020 Aug 4. J Neurochem. 2021. PMID: 32643187 Free PMC article. Review.
Mutations in Munc18-1/STXBP1 (syntaxin-binding protein 1) are linked to various severe early epileptic encephalopathies and neurodevelopmental disorders. ...This review focuses on the current understanding of the phenotypic spectrum of STXBP1-linked disorders, as we …
Mutations in Munc18-1/STXBP1 (syntaxin-binding protein 1) are linked to various severe early epileptic encephalopathies and neurodeve …
STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.
Freibauer A, Wohlleben M, Boelman C. Freibauer A, et al. Genes (Basel). 2023 Dec 5;14(12):2179. doi: 10.3390/genes14122179. Genes (Basel). 2023. PMID: 38137001 Free PMC article. Review.
We will also provide an overview of the suspected normal function of the STXBP1-encoded Munc18-1 protein, animal models, and experimental techniques that have been developed to study its function and use this information to try to explain the diverse phenotypes associated …
We will also provide an overview of the suspected normal function of the STXBP1-encoded Munc18-1 protein, animal models, and experime …
STXBP1 Encephalopathy with Epilepsy.
Mercimek-Andrews S. Mercimek-Andrews S. 2016 Dec 1 [updated 2023 Sep 28]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2016 Dec 1 [updated 2023 Sep 28]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 27905812 Free Books & Documents. Review.
Most individuals reported to date represent simplex cases (i.e., the only family member known to be affected) and have the disorder as the result of a de novo STXBP1 pathogenic variant. Individuals with STXBP1 encephalopathy with epilepsy are not known to reproduce. …
Most individuals reported to date represent simplex cases (i.e., the only family member known to be affected) and have the disorder as the r …
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have not been observed …
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic …
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with alpha-synucleinopathies?
Lanoue V, Chai YJ, Brouillet JZ, Weckhuysen S, Palmer EE, Collins BM, Meunier FA. Lanoue V, et al. Neurology. 2019 Jul 16;93(3):114-123. doi: 10.1212/WNL.0000000000007786. Epub 2019 Jun 20. Neurology. 2019. PMID: 31221716 Review.
De novo pathogenic variants in STXBP1 encoding syntaxin1-binding protein (STXBP1, also known as Munc18-1) lead to a range of early-onset neurocognitive conditions, most commonly early infantile epileptic encephalopathy type 4 (EIEE4, also called STXBP1 enceph …
De novo pathogenic variants in STXBP1 encoding syntaxin1-binding protein (STXBP1, also known as Munc18-1) lead to a range of e …
STXBP1: fast-forward to a brighter future - a patient organization perspective.
Goss JR, Prosser B, Helbig I, Son Rigby C. Goss JR, et al. Ther Adv Rare Dis. 2024 Jun 18;5:26330040241257221. doi: 10.1177/26330040241257221. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38898886 Free PMC article. Review.
The underlying pathophysiology stems from a de novo mutation in the STXBP1 gene, which codes for the STXBP1 protein. The STXBP1 protein is involved in synaptic vesicle fusion and neurotransmitter release. ...STXBP1: fast-forward to a brighter future …
The underlying pathophysiology stems from a de novo mutation in the STXBP1 gene, which codes for the STXBP1 protein. The ST …
STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research.
Ruano-Rodríguez S, Navarro-Alonso M, Domínguez-Velasco B, Álvarez-Dolado M, Esteban FJ. Ruano-Rodríguez S, et al. BioTech (Basel). 2025 Feb 20;14(1):11. doi: 10.3390/biotech14010011. BioTech (Basel). 2025. PMID: 40227275 Free PMC article. Review.
STXBP1 syndrome is a severe early-onset epileptic encephalopathy characterized by developmental delay and intellectual disability. This review addresses key challenges in STXBP1 syndrome research, focusing on advanced therapeutic approaches and experimental models. …
STXBP1 syndrome is a severe early-onset epileptic encephalopathy characterized by developmental delay and intellectual disability. Th …
STXBP1 as a therapeutic target for epileptic encephalopathy.
Stamberger H, Weckhuysen S, De Jonghe P. Stamberger H, et al. Expert Opin Ther Targets. 2017 Nov;21(11):1027-1036. doi: 10.1080/14728222.2017.1386175. Epub 2017 Oct 5. Expert Opin Ther Targets. 2017. PMID: 28971703 Review.
STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as STXBP1-encephalopathy (STXBP1-E). ...Both in vitro- and anima …
STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epi …
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 Free PMC article.
STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. ...Here, we assessed 1281 cumulative patient-years of seizure and developmental histories in 162 individuals with STXBP1-related disorders and established a natur …
STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. ...Here, we assessed 1281 cum …
577 results