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2000 2
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202 results

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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 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 …
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. ...STXBP1-related disorders are characterized by a dynamic pattern of seizures in the first year of life and high variability in neurodevelopmental trajectories i …
STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. ...STXBP1-related diso …
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. ...More than 88% of individuals with STXBP1-related disorders have seizure onset in the first year of life, including neonatal seizure onset in 47%. ...
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. ...More than 88% of indi …
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 …
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). ...Understanding the natural history of STXBP1-DEE is important for prognostication and will inform future therapeutic tr …
BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP …
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
BACKGROUND AND OBJECTIVES: Pathogenic variants in STXBP1 are among the major genetic causes of neurodevelopmental disorders. ...These findings identify children at risk for severe disease and can serve as comparator for future interventional studies in STXBP1-relate …
BACKGROUND AND OBJECTIVES: Pathogenic variants in STXBP1 are among the major genetic causes of neurodevelopmental disorders. ...These …
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, McKnight DA. Lindy AS, et al. Epilepsia. 2018 May;59(5):1062-1071. doi: 10.1111/epi.14074. Epub 2018 Apr 14. Epilepsia. 2018. PMID: 29655203
Recurrent P/LP variants were observed in 14 distinct genes, most commonly in MECP2, KCNQ2, SCN1A, SCN2A, STXBP1, and PRRT2. Parental testing was performed in >30% of positive cases. All variants identified in CDKL5, STXBP1, SCN8A, GABRA1, and FOXG1 were de novo, …
Recurrent P/LP variants were observed in 14 distinct genes, most commonly in MECP2, KCNQ2, SCN1A, SCN2A, STXBP1, and PRRT2. Parental …
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. Chen W, et al. Elife. 2020 Feb 19;9:e48705. doi: 10.7554/eLife.48705. Elife. 2020. PMID: 32073399 Free PMC article.
Here we modeled STXBP1 encephalopathy in mice and found that Stxbp1 haploinsufficiency caused cognitive, psychiatric, and motor dysfunctions, as well as cortical hyperexcitability and seizures. ...These results demonstrate that Stxbp1 haploinsufficient mice r …
Here we modeled STXBP1 encephalopathy in mice and found that Stxbp1 haploinsufficiency caused cognitive, psychiatric, and moto …
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM, Schneider AL, Russ-Hall S, Churilov L, Scheffer IE. Donnan AM, et al. Neurology. 2023 Apr 18;100(16):e1712-e1722. doi: 10.1212/WNL.0000000000207080. Epub 2023 Feb 7. Neurology. 2023. PMID: 36750385 Free PMC article.
We included patients with a pathogenic variant in the genes SCN1A, SCN2A, SCN8A, SYNGAP1, NEXMIF, CHD2, PCDH19, STXBP1, GRIN2A, KCNT1, and KCNQ2 and with Angelman syndrome (AS). ...Four genes were associated with SUDEP: SCN1A, SCN2A, SCN8A, and STXBP1. The estimated …
We included patients with a pathogenic variant in the genes SCN1A, SCN2A, SCN8A, SYNGAP1, NEXMIF, CHD2, PCDH19, STXBP1, GRIN2A, KCNT1 …
202 results