Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

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Items 101–200 of 205

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   David G. Garbuz, Artem I. Davletshin, Светлана Александровна Литвинова, И. Б. Федотова, Natalia M. Surina, И. И. Полетаева · 2022 · Biomedicines
3. Intrathecal immunoglobulin A and G antibodies to synapsin in a patient with limbic encephalitis
   Johannes Piepgras, Markus Höltje, Carolin Otto, Hendrik Harms, Annyesha Satapathy, Fabrizia Cesca, Fabio Benfenati, Daniel Gitler, Andreas Pich, Johannes-Friedrich Zander et al. · 2015 · Neurology Neuroimmunology & Neuroinflammation
4. Multi-proteomic Analysis Revealed Distinct Protein Profiles in Cerebrospinal Fluid of Patients Between Anti-NMDAR Encephalitis NORSE and Cryptogenic NORSE
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5. Temporal evolution of neurophysiological and behavioral features of synapsin I/II/III triple knock-out mice
   Marco Cambiaghi, Marco Cursi, Elena Monzani, Fabio Benfenati, Gıancarlo Comı, Fabio Minicucci, Flavia Valtorta, Letizia Leocani · 2012 · Epilepsy Research
6. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
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7. Physical Activity Reduces Epilepsy Incidence: a Retrospective Cohort Study in Swedish Cross-Country Skiers and an Experimental Study in Seizure-Prone Synapsin II Knockout Mice
   Matilda Ahl, Una Avdic, Maria Strandberg, Deepti Chugh, Emelie Andersson, Ulf Hållmarker, Stefan Karl James, Tomas Deierborg, Christine T. Ekdahl · 2019 · Sports Medicine - Open
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9. The Impact of BDNF, NTRK2, NGFR, CREB1, GSK3B, AKT, MAPK1, MTOR, PTEN, ARC, and SYN1 Genetic Polymorphisms in Antidepressant Treatment Response Phenotypes
   Santos, Marlene, Lima, Luis, Carvalho, Serafim, Mota-Pereira, Jorge, Pimentel, Paulo, Maia, Dulce, Correia, Diana, Barroso, M. Fátima, Gomes, Sofia, Cruz, Agostinho et al. · 2023 · International Journal of Molecular Sciences
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11. Hot water epilepsy and SYN 1 variants
    Angela Peron, Nissan Baratang, Maria Paola Canevini, Philippe M. Campeau, Aglaia Vignoli · 2018 · Epilepsia
12. Haploinsufficiency of STXBP1 and Ohtahara Syndrome
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13. The conserved protein kinase-A target motif in synapsin of Drosophilais effectively modified by pre-mRNA editing
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14. Mass Spectrometric Analysis of Synapsins in Drosophila melanogaster and Identification of Novel Phosphorylation Sites
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16. Distinct changes in neuronal and astrocytic amino acid neurotransmitter metabolism in mice with reduced numbers of synaptic vesicles
    Inger Lise Bogen, Øystein Risa, Kristin Huse Haug, Ursula Sonnewald, Frode Fonnum, Sven Ivar Walaas · 2008 · Journal of Neurochemistry
17. Knock-down of synapsin alters cell excitability and action potential waveform by potentiating BK and voltage-gated Ca2+ currents in Helix serotonergic neurons
    Oscar Brenes, David H. F. Vandael, Emilio Carbone, Pier Giorgio Montarolo, Mirella Ghirardi · 2015 · Neuroscience
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19. Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
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20. Electroencephalographic characterization of seizure activity in the synapsin I/II double knockout mouse
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21. Pentylenetetrazol-Induced Epileptiform Activity Affects Basal Synaptic Transmission and Short-Term Plasticity in Monosynaptic Connections
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22. Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle
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23. Alterations of presynaptic proteins in autism spectrum disorder
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24. Orchestrating vesicular and nonvesicular membrane dynamics by intrinsically disordered proteins
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25. Synapsin knockdown is associated with decreased neurite outgrowth, functional synaptogenesis impairment, and fast high‐frequency neurotransmitter release
    Oscar Brenes, Carlo NG Giachello, Anna Margherita Corradi, Mirella Ghirardi, Pier Giorgio Montarolo · 2015 · Journal of Neuroscience Research
26. Epileptic Synapsin Triple Knockout Mice Exhibit Progressive Long-Term Aberrant Plasticity in the Entorhinal Cortex
    Maya Ketzef, Daniel Gitler · 2012 · Cerebral Cortex
27. Synapsin I Synchronizes GABA Release in Distinct Interneuron Subpopulations
    Nicola Rosario Forte, F Binda, Andrea Contestabile, Fabio Benfenati, Pietro Baldelli · 2019 · Cerebral Cortex
28. Dysfunction of the serotonergic system in the brain of synapsin triple knockout mice is associated with behavioral abnormalities resembling synapsin-related human pathologies
    Margherita Tassan Mazzocco, Fabrizia Claudia Guarnieri, Elena Monzani, Fabio Benfenati, Flavia Valtorta, Stefano Comai · 2020 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
29. Synapsin is required to “boost” memory strength for highly salient events
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31. Nuclear localization of a novel human syntaxin 1B isoform
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36. SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family
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37. Ultrastructural quantification of glutamate receptors at excitatory synapses in hippocampus of synapsin I+II double knock-out mice
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38. Synapsin I Controls Synaptic Maturation of Long-Range Projections in the Lateral Amygdala in a Targeted Selective Fashion
    Eleonora Lugarà, Antonio De Fusco, Gabriele Lignani, Fabio Benfenati, Yann Humeau · 2019 · Frontiers in Cellular Neuroscience
39. Synapsin II Regulation of GABAergic Synaptic Transmission Is Dependent on Interneuron Subtype
    Pedro A. Feliciano‐Ramos, Heidi Y. Matos, Rodrigo Andrade, Maria Bykhovskaia · 2017 · Journal of Neuroscience
40. Synapsins I and II Are Not Required for Insulin Secretion from Mouse Pancreatic β-cells
    Wendt, Anna, Speidel, Dina, Danielsson, Anders, Esguerra, Jonathan L. S., Bogen, Inger Lise, Walaas, S. Ivar, Salehi, Albert, Eliasson, Lena · 2012 · Endocrinology
41. Implications of the Sap47 null mutation for synapsin phosphorylation, longevity, climbing, and behavioural plasticity in adult Drosophila
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42. Synapsin III promotes neuronal-like transdifferentiation of glioblastoma stem cells by disrupting JAG1-Notch1 interaction
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43. Haploinsufficiency of STXBP1 and Ohtahara syndrome
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44. Growth and excitability at synapsin II deficient hippocampal neurons
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45. Effects ofSYN1Q555Xmutation on cortical gray matter microstructure
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46. Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility – A Case‐Control Association Study
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47. Genetics, Molecular Biology, and Phenotypes of X-Linked Epilepsy
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48. SYN1 Gene Mutation in a Child with Focal Epilepsy and Reflex Bathing Seizures
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50. Subconvulsant doses of pentylenetetrazol uncover the epileptic phenotype of cultured synapsin-deficient Helix serotonergic neurons in the absence of excitatory and inhibitory inputs
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51. Maternal synapsin autoantibodies are associated with neurodevelopmental delay
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52. The expression and distribution of seizure-related and synaptic proteins in the insular cortex of rats genetically prone to audiogenic seizures
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54. Impaired GABAB-mediated presynaptic inhibition increases excitatory strength and alters short-term plasticity in synapsin knockout mice
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55. Postsynaptic Mechanisms Render Syn I/II/III Mice Highly Responsive to Psychostimulants
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56. SP1-mediated SYN1 promotes hemin-induced damage in PC12 cells in vitro and exacerbates blood-barrier disruption and brain injury after intracerebral hemorrhage in vivo
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57. Ca2+ binding to synapsin I regulates resting Ca2+ and recovery from synaptic depression in nerve terminals
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59. Synapsin autoantibodies during pregnancy are associated with fetal abnormalities
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60. Mapping an X‐linked locus that influences heat‐induced febrile seizures in mice
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