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2000 10
2001 4
2002 1
2003 7
2004 10
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2006 5
2007 8
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2011 18
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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 …
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 encephalopathy: Connecting neurodevelopmental disorders with α-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 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). In this review we hypothesi …
STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epi …
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, Sirsi D, Accorsi P, Amadori E, Astrea G, Baldassari S, Beccaria F, Boni A, Budetta M, Cantalupo G, Capovilla G, Cesaroni E, Chiesa V, Coppola A, Dilena R, Faggioli R, Ferrari A, Fiorini E, Madia F, Gennaro E, Giacomini T, Giordano L, Iacomino M, Lattanzi S, Marini C, Mancardi MM, Mastrangelo M, Messana T, Minetti C, Nobili L, Papa A, Parmeggiani A, Pisano T, Russo A, Salpietro V, Savasta S, Scala M, Accogli A, Scelsa B, Scudieri P, Spalice A, Specchio N, Trivisano M, Tzadok M, Valeriani M, Vari MS, Verrotti A, Vigevano F, Vignoli A, Toonen R, Zara F, Helbig I, Striano P. Balagura G, et al. Neurol Genet. 2022 May 31;8(3):e676. doi: 10.1212/NXG.0000000000000676. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35655584 Free PMC article.
We aim to trace the neurodevelopmental trajectories in individuals with STXBP1-DEE and dissect the relationship between neurodevelopment and epilepsy. ...A composite neurodevelopmental score system compared the developmental trajectories in STXBP1-DEE. RESULTS: Fort …
We aim to trace the neurodevelopmental trajectories in individuals with STXBP1-DEE and dissect the relationship between neurodevelopm …
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, Leffner 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 …
STXBP1 Encephalopathy with Epilepsy.
Khaikin Y, Mercimek-Andrews S. Khaikin Y, et al. 2016 Dec 1. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2016 Dec 1. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 27905812 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis is established in a proband by identification of a heterozygous intragenic pathogenic variant in STXBP1 or a contiguous gene deletion that includes STXBP1 and adjacent genes on molecular genetic testing. ...To date, most probands rep …
DIAGNOSIS/TESTING: The diagnosis is established in a proband by identification of a heterozygous intragenic pathogenic variant in STXBP1 …
Efficacy of levetiracetam in STXBP1 encephalopathy with different phenotypic and genetic spectra.
Wang QH, Cao JJ, Wang YY, Zhang MN, Liu LY, Wang J, Lu Q, He W, Shen YW, Chen HM, Luo XM, Chen Q, Zou LP. Wang QH, et al. Seizure. 2022 Feb;95:64-74. doi: 10.1016/j.seizure.2021.12.006. Epub 2021 Dec 24. Seizure. 2022. PMID: 35007884
STXBP1-related encephalopathy is a brain dysfunction caused by STXBP1 variation. ...This study aimed to analyze the prognosis of LEV treatment of STXBP1 encephalopathy (STXBP1-E) and the correlation among genotype, phenotype, and LEV efficacy. ...
STXBP1-related encephalopathy is a brain dysfunction caused by STXBP1 variation. ...This study aimed to analyze the prognosis …
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Houtman SJ, Lammertse HCA, van Berkel AA, Balagura G, Gardella E, Ramautar JR, Reale C, Møller RS, Zara F, Striano P, Misra-Isrie M, van Haelst MM, Engelen M, van Zuijen TL, Mansvelder HD, Verhage M, Bruining H, Linkenkaer-Hansen K. Houtman SJ, et al. Front Physiol. 2021 Dec 23;12:775172. doi: 10.3389/fphys.2021.775172. eCollection 2021. Front Physiol. 2021. PMID: 35002760 Free PMC article.
STXBP1 syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the STXBP1 gene and is characterized by psychomotor delay, early-onset developmental delay, and epileptic encephalopathy. ...Here, we present the first EEG study of patients wit …
STXBP1 syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the STXBP1 gene and is characterized …
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