Alhadidi Q, Shah ZA (2018) Cofilin mediates LPS-induced microglial cell activation and associated neurotoxicity through activation of NF-κB and JAK-STAT pathway. Mol Neurobiol 55(2):1676–1691
Article CAS PubMed Google Scholar
Albarran E, Sun Y, Liu Y et al (2023) Postsynaptic synucleins mediate endocannabinoid signaling. Nat Neurosci 26(6):997–1007
Article CAS PubMed PubMed Central Google Scholar
Chen W, Cai ZL, Chao ES et al (2020) Stxbp1/Munc18-1haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 9:e48705
Article CAS PubMed PubMed Central Google Scholar
Dos Santos AB, Larsen SD, Guo L et al (2023) Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability. Cell Rep Med 4(12):101308
Article CAS PubMed PubMed Central Google Scholar
Feng X, Xiong W, Yuan M et al (2019) Down-regulated microRNA-183 mediates the Jak/Stat signaling pathway to attenuate hippocampal neuron injury in epilepsy rats by targeting Foxp1. Cell Cycle 18(22):3206–3222
Article CAS PubMed PubMed Central Google Scholar
Fu Q, Qiu R, Chen L, Chen Y, Qi W, Cheng Y (2023) Music prevents stress-induced depression and anxiety-like behavior in mice. Transl Psychiatry 13(1):317
Article CAS PubMed PubMed Central Google Scholar
Galer PD, McKee JL, Ruggiero SM et al (2024) Quantitative EEG spectral features differentiate genetic epilepsies and predict neurologic outcomes. Preprint. medRxiv 2024:10.09.24315105
Goss JR, Prosser B, Helbig I, Son Rigby C (2024) STXBP1: fast-forward to a brighter future - a patient organization perspective. Ther Adv Rare Dis 5:26330040241257221 Published 2024 Jun 18
PubMed PubMed Central Google Scholar
Hamada N, Iwamoto I, Tabata H, Nagata KI (2017) MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta Neuropathol Commun 5(1):92
Article PubMed PubMed Central Google Scholar
Hölter SM, Garrett L, Einicke J et al (2015) Assessing cognition in mice. Curr Protoc Mouse Biol 5(4):331–358
Houtman SJ, Lammertse HCA, van Berkel AA et al (2021) STXBP1 syndrome is characterized by inhibition-dominated dynamics of resting-state EEG. Front Physiol 12:775172
Article PubMed PubMed Central Google Scholar
Jang S, Park I, Choi M et al (2023) Impact of the circadian nuclear receptor REV-ERBα in dorsal raphe 5-HT neurons on social interaction behavior, especially social preference. Exp Mol Med 55(8):1806–1819
Article CAS PubMed PubMed Central Google Scholar
Jiang K, Yang LT, Xue M (2025) Breaking the synaptic vesicle cycle: mechanistic insights into presynaptic dysfunctions in epilepsy. Epilepsy Curr 25(2):119–124
Article CAS PubMed PubMed Central Google Scholar
Kang X, Wang D, Zhang L et al (2023) Exendin-4 ameliorates tau hyperphosphorylation and cognitive impairment in type 2 diabetes through acting on Wnt/β-catenin/NeuroD1 pathway. Mol Med 29(1):118
Article CAS PubMed PubMed Central Google Scholar
Kovacevic J, Maroteaux G, Schut D et al (2018) Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain. 141(5):1350–1374
Article PubMed PubMed Central Google Scholar
Lanoue V, Chai YJ, Brouillet JZ et al (2019) STXBP1encephalopathy: connecting neurodevelopmental disorders with α-synucleinopathies? Neurology 93(3):114–123
Article CAS PubMed Google Scholar
Liu H, Du Y, Liu LL, Liu QS, Mao HH, Cheng Y (2023) Anti-depression-like effect of Mogroside V is related to the inhibition of inflammatory and oxidative stress pathways. Eur J Pharmacol 955:175828
Article CAS PubMed Google Scholar
Liu H, Yang C, Wang X et al (2024a) Propofol improves sleep deprivation-induced sleep structural and cognitive deficits via upregulating the BMAL1 expression and suppressing microglial M1 polarization. CNS Neurosci Ther 30(7):e14798
Article CAS PubMed PubMed Central Google Scholar
Liu S, Chen L, Guo M et al (2024b) Targeted delivery of engineered RVG-BDNF-exosomes: a novel neurobiological approach for ameliorating depression and regulating neurogenesis. Research 7
Liu Y, Zhang Y, Zheng X et al (2018) Galantamine improves cognition, hippocampal inflammation, and synaptic plasticity impairments induced by lipopolysaccharide in mice. J Neuroinflammation 15(1):112
Article PubMed PubMed Central Google Scholar
Loussouarn A, Doummar D, Beaugendre Y et al (2021) Tremor-like subcortical myoclonus in STXBP1 encephalopathy. Eur J Paediatr Neurol 34:62–66
Article CAS PubMed Google Scholar
Marotta N, Boland MJ, Prosser BL (2024) Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders. Curr Probl Pediatr Adolesc Health Care 54(8):101576
Matsuoka T, Yoshida H, Kasai T, Tozawa T, Iehara T, Chiyonobu T (2024) α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies. Hum Mol Genet 33(15):1328–1338
Article CAS PubMed Google Scholar
Munch AS, Kedar GH, van Weering JR et al (2016) Extension of helix 12 in Munc18-1 induces vesicle priming. J Neurosci 36(26):6881–6891
Article CAS PubMed PubMed Central Google Scholar
O’Brien S, Ng-Cordell E, DDD Study, Astle DE, Scerif G, Baker K (2019) STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics. J Neurodev Disord 11(1):17
Article PubMed PubMed Central Google Scholar
Rahman MM, Hwang SM, Go EJ, Kim YH et al (2024) Irisin alleviates CFA-induced inflammatory pain by modulating macrophage polarization and spinal glial cell activation. Biomed Pharmacother 178:117157
Article CAS PubMed Google Scholar
Ruano-Rodríguez S, Navarro-Alonso M, Domínguez-Velasco B, Álvarez-Dolado M, Esteban FJ (2025) STXBP1 syndrome: biotechnological advances, challenges, and perspectives in gene therapy, experimental models, and translational research. BioTech 14(1):11
Article PubMed PubMed Central Google Scholar
Rui M, Qian J, Liu L et al (2017) The neuronal protein neurexin directly interacts with the scribble-pix complex to stimulate F-actin assembly for synaptic vesicle clustering. J Biol Chem 292(35):14334–14348
Article CAS PubMed PubMed Central Google Scholar
Sharkov A, Dulac O, Gataullina S (2021) STXBP1 germline mutation and focal cortical dysplasia. Epileptic Disord 23(1):143–147
Shen Y, Zhang Y, Du J et al (2021) CXCR5 down-regulation alleviates cognitive dysfunction in a mouse model of sepsis-associated encephalopathy: potential role of microglial autophagy and the p38MAPK/NF-κB/STAT3 signaling pathway. J Neuroinflammation 18(1):246
Article CAS PubMed PubMed Central Google Scholar
Stamberger H, Crosiers D, Balagura G et al (2023) Natural history study of STXBP1-developmental and epileptic encephalopathy into adulthood. Neurology 101(1):52
Stamberger H, Nikanorova M, Willemsen MH et al (2016) STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology 86(10):954–962
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