| A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy. | A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.
Wang Z, Zhang J, Zhou Y, Liu G, Tian Z, Song X., Free PMC Article | 11/5/2024 |
| Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction. | Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
André T, van Berkel AA, Singh G, Abualrous ET, Diwan GD, Schmenger T, Braun L, Malsam J, Toonen RF, Freund C, Russell RB, Verhage M, Söllner TH. | 07/16/2024 |
| Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F. | Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
Öttl M, Toonen RF, Verhage M., Free PMC Article | 05/24/2024 |
| Early life seizures and epileptic spasms in STXBP1-related disorders. | Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I., | 03/20/2024 |
| Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1. | 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., Free PMC Article | 09/1/2023 |
| The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B. | The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
Liu RJY, Al-Molieh Y, Chen SZ, Drobac M, Urban D, Chen CH, Yao HHY, Geng RSQ, Li L, Pluthero FG, Benlekbir S, Rubinstein JL, Kahr WHA., Free PMC Article | 06/28/2023 |
| Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China. | Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
Kessi M, Chen B, Shan LD, Wang Y, Yang L, Yin F, He F, Peng J, Wang G., Free PMC Article | 03/9/2023 |
| Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy. | Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.
McLeod F, Dimtsi A, Marshall AC, Lewis-Smith D, Thomas R, Clowry GJ, Trevelyan AJ., Free PMC Article | 03/6/2023 |
| An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1. | An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.
Feringa FM, van Berkel AA, Nair A, Verhage M., Free PMC Article | 01/28/2023 |
| Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. | 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., Free PMC Article | 07/30/2022 |
| Assessing the landscape of STXBP1-related disorders in 534 individuals. | 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., Free PMC Article | 06/25/2022 |
| Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. | Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
Ichise E, Chiyonobu T, Ishikawa M, Tanaka Y, Shibata M, Tozawa T, Taura Y, Yamashita S, Yoshida M, Morimoto M, Higurashi N, Yamamoto T, Okano H, Hirose S. | 04/16/2022 |
| Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders. | Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y, Wang R, Liu Z, Jiang S, Du L, Qiu K, Li F, Wang Q, Jin J, Chen X, Li Z, Wu J, Zhang N. | 08/28/2021 |
| De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A. | De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.
Banne E, Falik-Zaccai T, Brielle E, Kalfon L, Ladany H, Klinger D, Schneidman-Duhovny D, Linial M. | 06/5/2021 |
| Role of Munc18-1 in the biological functions and pathogenesis of neurological disorders (Review). | Role of Munc18-1 in the biological functions and pathogenesis of neurological disorders (Review).
Tang F, Xiao D, Chen L, Gao H, Li X., Free PMC Article | 05/8/2021 |
| Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. | 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., Free PMC Article | 04/17/2021 |
| Membrane Location of Syntaxin-Binding Protein 1 Is Correlated with Poor Prognosis of Lung Adenocarcinoma. | Membrane Location of Syntaxin-Binding Protein 1 Is Correlated with Poor Prognosis of Lung Adenocarcinoma.
Wang X, Fu G, Wen J, Chen H, Zhang B, Zhu D. | 02/6/2021 |
| Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. | Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I., Free PMC Article | 12/5/2020 |
| Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans. | Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans.
Zhu B, Mak JCH, Morris AP, Marson AG, Barclay JW, Sills GJ, Morgan A., Free PMC Article | 10/24/2020 |
| [Clinical and genetic characteristics of children with STXBP1 encephalopathy]. | [Clinical and genetic characteristics of children with STXBP1 encephalopathy].
Cao JJ, Ji XN, Mao YY, Zhang PP, Liu WT, Zhang HZ, Ding N, Chen Q. | 09/12/2020 |
| De novo mutations in STXBP1 are associated with complex and variable neurodevelopmental impairments. | STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.
O'Brien S, Ng-Cordell E, DDD Study, Astle DE, Scerif G, Baker K., Free PMC Article | 08/12/2020 |
| High risk nsSNPs that may affect the Stxbp1 protein structure and function. Thus, these variants should be taken into consideration during the genetic screening of patients suffering from early infantile epileptic encephalopathy. | Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
Al Mehdi K, Fouad B, Zouhair E, Boutaina B, Yassine N, Chaimaa AEC, Najat S, Hassan R, Rachida R, Abdelhamid B, Halima N., Free PMC Article | 07/11/2020 |
| A small group of patients were identified with STXBP1 mutations presenting with early infantile epileptic encephalopathy with awake bruxism. | STXBP1 encephalopathy is associated with awake bruxism.
Rezazadeh A, Uddin M, Snead OC 3rd, Lira V, Silberberg A, Weiss S, Donner EJ, Zak M, Bradbury L, Scherer SW, Fasano A, Andrade DM. | 06/13/2020 |
| We confirm the role of STXBP1 in atypical Rett syndrome (RTT)/Rett syndrome (RTT)-like patients if early psychomotor delay and epilepsy before 2 years of age are observed, indicating its inclusion in the RTT diagnostic panel. | Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S., Free PMC Article | 12/28/2019 |
| The data of this study demonstrate the construct, face and predictive validity of Stxbp1+/- mice and point to protein instability, haploinsufficiency and imbalanced excitation in neocortex, as the underlying mechanism of STXBP1-encephalopathy. | Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Kovacevic J, Maroteaux G, Schut D, Loos M, Dubey M, Pitsch J, Remmelink E, Koopmans B, Crowley J, Cornelisse LN, Sullivan PF, Schoch S, Toonen RF, Stiedl O, Verhage M., Free PMC Article | 07/13/2019 |