{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:44:31Z","timestamp":1792021471211,"version":"4.4.0"},"reference-count":111,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Finding a Cure for Epilepsy and Seizures and the National Institute of Health","award":["U01NS090415"],"award-info":[{"award-number":["U01NS090415"]}]},{"name":"Finding a Cure for Epilepsy and Seizures and the National Institute of Health","award":["1RF1AG058267"],"award-info":[{"award-number":["1RF1AG058267"]}]},{"name":"Finding a Cure for Epilepsy and Seizures and the National Institute of Health","award":["P30AG066512"],"award-info":[{"award-number":["P30AG066512"]}]},{"name":"Finding a Cure for Epilepsy and Seizures and the National Institute of Health","award":["P01AG060882"],"award-info":[{"award-number":["P01AG060882"]}]},{"name":"Bluesand Foundation to ED, Philippe Chatrier Foundation to G.P"},{"name":"National Institute of Health","award":["1S10OD010582-01A1"],"award-info":[{"award-number":["1S10OD010582-01A1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Epilepsy is a common neurological disorder affecting over 70 million people worldwide, with a high rate of pharmaco-resistance, diverse comorbidities including progressive cognitive and behavioural disorders, and increased mortality from direct (e.g. sudden unexpected death in epilepsy, accidents, drowning) or indirect effects of seizures and therapies. Extensive research with animal models and human studies provides limited insights into the mechanisms underlying seizures and epileptogenesis, and these have not translated into significant reductions in pharmaco-resistance, morbidities or mortality. To help define changes in molecular signalling networks associated with seizures in epilepsy with a broad range of aetiologies, we examined the proteome of brain samples from epilepsy and control cases. Label-free quantitative mass spectrometry was performed on the hippocampal cornu ammonis 1\u20133 region (CA1\u20133), frontal cortex and dentate gyrus microdissected from epilepsy and control cases (n\u2009=\u200914\/group). Epilepsy cases had significant differences in the expression of 777 proteins in the hippocampal CA1\u2009\u2212\u20093 region, 296 proteins in the frontal cortex and 49 proteins in the dentate gyrus in comparison to control cases. Network analysis showed that proteins involved in protein synthesis, mitochondrial function, G-protein signalling and synaptic plasticity were particularly altered in epilepsy. While protein differences were most pronounced in the hippocampus, similar changes were observed in other brain regions indicating broad proteomic abnormalities in epilepsy. Among the most significantly altered proteins, G-protein subunit beta 1 (GNB1) was one of the most significantly decreased proteins in epilepsy in all regions studied, highlighting the importance of G-protein subunit signalling and G-protein-coupled receptors in epilepsy. Our results provide insights into common molecular mechanisms underlying epilepsy across various aetiologies, which may allow for novel targeted therapeutic strategies.<\/jats:p>","DOI":"10.1093\/braincomms\/fcab021","type":"journal-article","created":{"date-parts":[[2021,3,2]],"date-time":"2021-03-02T15:12:09Z","timestamp":1614697929000},"source":"Crossref","is-referenced-by-count":60,"title":["Proteomic differences in the hippocampus and cortex of epilepsy brain tissue"],"prefix":"10.1093","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7050-9844","authenticated-orcid":false,"given":"Geoffrey","family":"Pires","sequence":"first","affiliation":[{"name":"Comprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY, USA"},{"name":"Department of Neurology, Center for Cognitive Neurology, New York University Grossman School of Medicine, New York, NY, USA"},{"name":"Alzheimer\u2019s and Prion Diseases Team, Paris Brain Institute, CNRS, UMR 7225, INSERM 1127, Sorbonne University UM75, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1371-9861","authenticated-orcid":false,"given":"Dominique","family":"Leitner","sequence":"additional","affiliation":[{"name":"Comprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5466-4609","authenticated-orcid":false,"given":"Eleanor","family":"Drummond","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Cognitive Neurology, New York University Grossman School of Medicine, New York, NY, USA"},{"name":"Faculty of Medicine and Health, Brain and Mind Centre and School of Medical Sciences, University of Sydney, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgeny","family":"Kanshin","sequence":"additional","affiliation":[{"name":"Proteomics Laboratory, Division of Advanced Research Technologies, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shruti","family":"Nayak","sequence":"additional","affiliation":[{"name":"Proteomics Laboratory, Division of Advanced Research Technologies, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manor","family":"Askenazi","sequence":"additional","affiliation":[{"name":"Biomedical Hosting LLC, USA"},{"name":"Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arline","family":"Faustin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Cognitive Neurology, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Friedman","sequence":"additional","affiliation":[{"name":"Comprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovic","family":"Debure","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Cognitive Neurology, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrix","family":"Ueberheide","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Cognitive Neurology, New York University Grossman School of Medicine, New York, NY, USA"},{"name":"Proteomics Laboratory, Division of Advanced Research Technologies, New York University Grossman School of Medicine, New York, NY, USA"},{"name":"Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3379-8966","authenticated-orcid":false,"given":"Thomas","family":"Wisniewski","sequence":"additional","affiliation":[{"name":"Department of Neurology, Center for Cognitive Neurology, New York University Grossman School of Medicine, New York, NY, USA"},{"name":"Department of Psychiatry, New York University Grossman School of Medicine, New York, NY, USA"},{"name":"Department of Pathology, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orrin","family":"Devinsky","sequence":"additional","affiliation":[{"name":"Comprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,3,9]]},"reference":[{"issue":"5","key":"2021090608021039400_fcab021-B1","doi-asserted-by":"crossref","first-page":"883\u2212","DOI":"10.1111\/j.1528-1167.2009.02481.x","article-title":"Estimation of the burden of active and life-time epilepsy: a meta-analytic approach","volume":"51","author":"Ngugi","year":"2010","journal-title":"Epilepsia"},{"key":"2021090608021039400_fcab021-B2","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/B978-0-12-802395-2.00015-8","article-title":"Neuropathology of epilepsy","volume":"145","author":"Aronica","year":"2017","journal-title":"Handb Clin Neurol"},{"key":"2021090608021039400_fcab021-B3","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.nbd.2018.04.002","article-title":"Epileptogenesis, traumatic brain injury, and biomarkers","volume":"123","author":"Engel","year":"2019","journal-title":"Neurobiol Dis"},{"issue":"10172","key":"2021090608021039400_fcab021-B4","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S0140-6736(18)32596-0","article-title":"Epilepsy in adults","volume":"393","author":"Thijs","year":"2019","journal-title":"Lancet (London, England)"},{"issue":"7","key":"2021090608021039400_fcab021-B5","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1038\/gim.2015.155","article-title":"Mosaic mutations in early-onset genetic diseases","volume":"18","author":"Halvorsen","year":"2016","journal-title":"Genet Med"},{"issue":"4","key":"2021090608021039400_fcab021-B6","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"2021090608021039400_fcab021-B7","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.seizure.2016.11.030","article-title":"Epilepsy-associated genes","volume":"44","author":"Wang","year":"2017","journal-title":"Seizure"},{"issue":"11","key":"2021090608021039400_fcab021-B8","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1038\/s41593-018-0257-3","article-title":"Somatic mosaicism and neurodevelopmental disease","volume":"21","author":"D'Gama","year":"2018","journal-title":"Nat Neurosci"},{"key":"2021090608021039400_fcab021-B9","doi-asserted-by":"crossref","first-page":"20","DOI":"10.3389\/fgene.2018.00020","article-title":"Next generation sequencing methods for diagnosis of epilepsy syndromes","volume":"9","author":"Dunn","year":"2018","journal-title":"Front Genet"},{"issue":"3","key":"2021090608021039400_fcab021-B10","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/nn.3947","article-title":"Molecular mechanisms of epilepsy","volume":"18","author":"Staley","year":"2015","journal-title":"Nat Neurosci. Mar"},{"issue":"8","key":"2021090608021039400_fcab021-B11","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1111\/epi.13066","article-title":"Sudden unexplained death in childhood: a comparison of cases with and without a febrile seizure history","volume":"56","author":"Hesdorffer","year":"2015","journal-title":"Epilepsia"},{"issue":"10","key":"2021090608021039400_fcab021-B12","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1016\/S1474-4422(16)30158-2","article-title":"Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention","volume":"15","author":"Devinsky","year":"2016","journal-title":"Lancet Neurol"},{"issue":"1","key":"2021090608021039400_fcab021-B13","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1528-1167.2010.02777.x","article-title":"The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission","volume":"52","author":"Blumcke","year":"2011","journal-title":"Epilepsia"},{"key":"2021090608021039400_fcab021-B14","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.2147\/NDT.S50371","article-title":"Animal models of epilepsy: use and limitations","volume":"10","author":"Kandratavicius","year":"2014","journal-title":"Neuropsychiatr Dis Treat"},{"key":"2021090608021039400_fcab021-B15","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.jneumeth.2015.04.007","article-title":"Genetic animal models of malformations of cortical development and epilepsy","volume":"260","author":"Wong","year":"2016","journal-title":"J Neurosci Methods."},{"issue":"1","key":"2021090608021039400_fcab021-B16","doi-asserted-by":"crossref","first-page":"7116","DOI":"10.1038\/s41598-018-25378-9","article-title":"Different patterns of epileptiform-like activity are generated in the sclerotic hippocampus from patients with drug-resistant temporal lobe epilepsy","volume":"8","author":"Reyes-Garcia","year":"2018","journal-title":"Sci Rep"},{"key":"2021090608021039400_fcab021-B17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.conb.2017.02.001","article-title":"Epilepsy and synaptic proteins","volume":"45","author":"Fukata","year":"2017","journal-title":"Curr Opin Neurobiol"},{"issue":"6","key":"2021090608021039400_fcab021-B18","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1111\/epi.15216","article-title":"2017 WONOEP appraisal: studying epilepsy as a network disease using systems biology approaches","volume":"60","author":"Mahoney","year":"2019","journal-title":"Epilepsia"},{"issue":"9","key":"2021090608021039400_fcab021-B19","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/S1474-4422(14)70171-1","article-title":"Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies","volume":"13","year":"2014","journal-title":"Lancet Neurol"},{"issue":"Pt 3","key":"2021090608021039400_fcab021-B20","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1093\/brain\/awu373","article-title":"Differential DNA methylation profiles of coding and non-coding genes define hippocampal sclerosis in human temporal lobe epilepsy","volume":"138","author":"Miller-Delaney","year":"2015","journal-title":"Brain"},{"key":"2021090608021039400_fcab021-B21","doi-asserted-by":"crossref","first-page":"25668","DOI":"10.1038\/srep25668","article-title":"Etiology matters - Genomic DNA methylation patterns in three rat models of acquired epilepsy","volume":"6","author":"D\u0119bski","year":"2016","journal-title":"Sci Rep"},{"issue":"7","key":"2021090608021039400_fcab021-B22","doi-asserted-by":"crossref","first-page":"e0179924","DOI":"10.1371\/journal.pone.0179924","article-title":"Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain","volume":"12","author":"Casillas-Espinosa","year":"2017","journal-title":"PloS One"},{"issue":"1","key":"2021090608021039400_fcab021-B23","doi-asserted-by":"crossref","first-page":"5269","DOI":"10.1038\/s41467-018-07524-z","article-title":"Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies","volume":"9","year":"2018","journal-title":"Nat Commun"},{"issue":"1","key":"2021090608021039400_fcab021-B24","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S1474-4422(19)30269-8","article-title":"Epilepsy genetics: clinical impacts and biological insights","volume":"19","author":"Ellis","year":"2020","journal-title":"The Lancet Neurology"},{"issue":"1","key":"2021090608021039400_fcab021-B25","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.cels.2016.11.006","article-title":"A multi-network approach identifies protein-specific co-expression in asymptomatic and symptomatic Alzheimer's disease","volume":"4","author":"Seyfried","year":"2017","journal-title":"Cell Syst"},{"issue":"5","key":"2021090608021039400_fcab021-B26","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.1021\/acs.jproteome.6b00003","article-title":"High-throughput LC-MS\/MS proteomic analysis of a mouse model of mesiotemporal lobe epilepsy predicts microglial activation underlying disease development","volume":"15","author":"Bitsika","year":"2016","journal-title":"J Proteome Res"},{"key":"2021090608021039400_fcab021-B27","doi-asserted-by":"crossref","first-page":"160068","DOI":"10.1038\/sdata.2016.68","article-title":"Multi-omics profile of the mouse dentate gyrus after kainic acid-induced status epilepticus","volume":"3","author":"Schouten","year":"2016","journal-title":"Sci. Data"},{"issue":"4","key":"2021090608021039400_fcab021-B28","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00726-005-0281-y","article-title":"Aberrant expression of cytoskeleton proteins in hippocampus from patients with mesial temporal lobe epilepsy","volume":"30","author":"Yang","year":"2006","journal-title":"Amino Acids"},{"issue":"4","key":"2021090608021039400_fcab021-B29","doi-asserted-by":"crossref","first-page":"e0195639","DOI":"10.1371\/journal.pone.0195639","article-title":"Proteomic analysis of human epileptic neocortex predicts vascular and glial changes in epileptic regions","volume":"13","author":"Keren-Aviram","year":"2018","journal-title":"PloS One"},{"key":"2021090608021039400_fcab021-B30","doi-asserted-by":"crossref","first-page":"15456","DOI":"10.1038\/srep15456","article-title":"Proteomic analysis of neurons microdissected from formalin-fixed, paraffin-embedded Alzheimer's disease brain tissue","volume":"5","author":"Drummond","year":"2015","journal-title":"Sci Rep"},{"issue":"6","key":"2021090608021039400_fcab021-B31","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1007\/s00401-017-1691-0","article-title":"Proteomic differences in amyloid plaques in rapidly progressive and sporadic Alzheimer's disease","volume":"133","author":"Drummond","year":"2017","journal-title":"Acta Neuropathologica"},{"key":"2021090608021039400_fcab021-B32","volume-title":"Neuropathology: a reference text of CNS pathology, 3rd ed","author":"David Ellison","year":"2013"},{"key":"2021090608021039400_fcab021-B33","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/978-1-4939-7558-7_18","article-title":"Isolation of Amyloid Plaques and Neurofibrillary Tangles from Archived Alzheimer's Disease Tissue Using Laser-Capture Microdissection for Downstream Proteomics","volume":"1723","author":"Drummond","year":"2018","journal-title":"Methods Mol Biol (Clifton, NJ)"},{"issue":"12","key":"2021090608021039400_fcab021-B34","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1038\/nbt.1511","article-title":"MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification","volume":"26","author":"Cox","year":"2008","journal-title":"Nat Biotechnol"},{"issue":"5","key":"2021090608021039400_fcab021-B35","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1038\/nprot.2009.36","article-title":"A practical guide to the MaxQuant computational platform for SILAC-based quantitative proteomics","volume":"4","author":"Cox","year":"2009","journal-title":"Nat Protoc"},{"issue":"8","key":"2021090608021039400_fcab021-B36","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1007\/s13361-011-0142-8","article-title":"Software lock mass by two-dimensional minimization of peptide mass errors","volume":"22","author":"Cox","year":"2011","journal-title":"J Am Soc Mass Spectrom"},{"issue":"9","key":"2021090608021039400_fcab021-B37","doi-asserted-by":"crossref","first-page":"2513","DOI":"10.1074\/mcp.M113.031591","article-title":"Accurate proteome-wide label-free quantification by delayed normalization and maximal peptide ratio extraction, termed MaxLFQ","volume":"13","author":"Cox","year":"2014","journal-title":"Mol Cell Proteomics"},{"issue":"9","key":"2021090608021039400_fcab021-B38","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/nmeth.3901","article-title":"The Perseus computational platform for comprehensive analysis of (prote)omics data","volume":"13","author":"Tyanova","year":"2016","journal-title":"Nat Methods."},{"issue":"Database","key":"2021090608021039400_fcab021-B39","doi-asserted-by":"crossref","first-page":"D447","DOI":"10.1093\/nar\/gku1003","article-title":"STRING v10: protein-protein interaction networks, integrated over the tree of life","volume":"43","author":"Szklarczyk","year":"2015","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"2021090608021039400_fcab021-B40","doi-asserted-by":"crossref","first-page":"D362","DOI":"10.1093\/nar\/gkw937","article-title":"The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible","volume":"45","author":"Szklarczyk","year":"2017","journal-title":"Nucleic Acids Res"},{"issue":"18","key":"2021090608021039400_fcab021-B41","doi-asserted-by":"crossref","first-page":"2847","DOI":"10.1093\/bioinformatics\/btw313","article-title":"Complex heatmaps reveal patterns and correlations in multidimensional genomic data","volume":"32","author":"Gu","year":"2016","journal-title":"Bioinformatics"},{"issue":"1","key":"2021090608021039400_fcab021-B42","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/nbt.4038","article-title":"Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain","volume":"36","author":"Lake","year":"2018","journal-title":"Nat Biotechnol"},{"issue":"3","key":"2021090608021039400_fcab021-B43","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1074\/mcp.RA118.001290","article-title":"Changes in synaptic proteins precede neurodegeneration markers in preclinical Alzheimer's disease cerebrospinal fluid","volume":"18","author":"Lleo","year":"2019","journal-title":"Mol Cell Proteomics"},{"key":"2021090608021039400_fcab021-B44","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/bs.pbr.2016.04.005","article-title":"Normal and epilepsy-associated pathologic function of the dentate gyrus","volume":"226","author":"Dengler","year":"2016","journal-title":"Prog Brain Res"},{"issue":"3","key":"2021090608021039400_fcab021-B45","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1093\/jnen\/nlz136","article-title":"Neuropathologic changes in sudden unexplained death in childhood","volume":"79","author":"McGuone","year":"2020","journal-title":"J Neuropathol Exp Neurol"},{"issue":"6","key":"2021090608021039400_fcab021-B46","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1093\/brain\/awy092","article-title":"De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy","volume":"141","author":"Fassio","year":"2018","journal-title":"Brain"},{"issue":"4","key":"2021090608021039400_fcab021-B47","doi-asserted-by":"crossref","first-page":"95","DOI":"10.3390\/ph11040095","article-title":"Altered proteins in the hippocampus of patients with mesial temporal lobe epilepsy","volume":"11","author":"Persike","year":"2018","journal-title":"Pharmaceuticals (Basel)"},{"issue":"2","key":"2021090608021039400_fcab021-B48","doi-asserted-by":"crossref","first-page":"e0172214","DOI":"10.1371\/journal.pone.0172214","article-title":"Differentially expressed proteins underlying childhood cortical dysplasia with epilepsy identified by iTRAQ proteomic profiling","volume":"12","author":"Qin","year":"2017","journal-title":"PLoS One"},{"key":"2021090608021039400_fcab021-B49","doi-asserted-by":"crossref","first-page":"6930","DOI":"10.1038\/srep06930","article-title":"Profiling status epilepticus-induced changes in hippocampal RNA expression using high-throughput RNA sequencing","volume":"4","author":"Hansen","year":"2014","journal-title":"Sci Rep"},{"issue":"6","key":"2021090608021039400_fcab021-B50","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1093\/brain\/awz074","article-title":"Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy","volume":"142","author":"Guelfi","year":"2019","journal-title":"Brain"},{"issue":"5","key":"2021090608021039400_fcab021-B51","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.ajhg.2016.03.011","article-title":"Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures","volume":"98","author":"Petrovski","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"11","key":"2021090608021039400_fcab021-B52","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1002\/ajmg.a.40472","article-title":"Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature","volume":"176","author":"Hemati","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"5","key":"2021090608021039400_fcab021-B53","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.367","article-title":"A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation","volume":"41","author":"Tarpey","year":"2009","journal-title":"Nat Genet"},{"issue":"6","key":"2021090608021039400_fcab021-B54","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1007\/s10571-014-0068-3","article-title":"Abnormal expression of synaptophysin, SNAP-25, and synaptotagmin 1 in the hippocampus of kainic acid-exposed rats with behavioral deficits","volume":"34","author":"Zhang","year":"2014","journal-title":"Cell Mol Neurobiol"},{"issue":"12","key":"2021090608021039400_fcab021-B55","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.1016\/j.neurobiolaging.2014.06.009","article-title":"Lamotrigine attenuates deficits in synaptic plasticity and accumulation of amyloid plaques in APP\/PS1 transgenic mice","volume":"35","author":"Zhang","year":"2014","journal-title":"Neurobiol Aging"},{"key":"2021090608021039400_fcab021-B56","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.eplepsyres.2017.08.013","article-title":"Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies","volume":"137","author":"Kang","year":"2017","journal-title":"Epilepsy Res"},{"issue":"4","key":"2021090608021039400_fcab021-B57","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1212\/WNL.0000000000004152","article-title":"encephalopathy: a new disease of vesicle fission","volume":"89","author":"von Spiczak","year":"2017","journal-title":"Neurology."},{"key":"2021090608021039400_fcab021-B58","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.bbi.2015.12.007","article-title":"Proteomic profiling of epileptogenesis in a rat model: focus on inflammation","volume":"53","author":"Walker","year":"2016","journal-title":"Brain Behav Immun."},{"key":"2021090608021039400_fcab021-B59","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.nbd.2018.01.013","article-title":"Proteomic profiling of epileptogenesis in a rat model: focus on cell stress, extracellular matrix and angiogenesis","volume":"112","author":"Keck","year":"2018","journal-title":"Neurobiol Dis."},{"key":"2021090608021039400_fcab021-B60","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.brainres.2011.01.011","article-title":"Myelin damage of hippocampus and cerebral cortex in rat pentylenetetrazol model","volume":"1381","author":"You","year":"2011","journal-title":"Brain Res"},{"key":"2021090608021039400_fcab021-B61","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.brainres.2013.05.026","article-title":"Altered hippocampal myelinated fiber integrity in a lithium-pilocarpine model of temporal lobe epilepsy: a histopathological and stereological investigation","volume":"1522","author":"Ye","year":"2013","journal-title":"Brain Res"},{"issue":"1","key":"2021090608021039400_fcab021-B62","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ymgme.2011.02.001","article-title":"Natural course of glutamine synthetase deficiency in a 3 year old patient","volume":"103","author":"H\u00e4berle","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"9402","key":"2021090608021039400_fcab021-B63","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/S0140-6736(03)15166-5","article-title":"Loss of glutamine synthetase in the human epileptogenic hippocampus: possible mechanism for raised extracellular glutamate in mesial temporal lobe epilepsy","volume":"363","author":"Eid","year":"2004","journal-title":"Lancet"},{"key":"2021090608021039400_fcab021-B64","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.neuint.2018.07.009","article-title":"Selective deletion of glutamine synthetase in the mouse cerebral cortex induces glial dysfunction and vascular impairment that precede epilepsy and neurodegeneration","volume":"123","author":"Zhou","year":"2019","journal-title":"Neurochem Int"},{"issue":"1","key":"2021090608021039400_fcab021-B65","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2012.05.001","article-title":"Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1","volume":"91","author":"Zhou","year":"2012","journal-title":"Am J Hum Genet. Jul"},{"issue":"21","key":"2021090608021039400_fcab021-B66","doi-asserted-by":"crossref","first-page":"8588","DOI":"10.1523\/JNEUROSCI.17-21-08588.1997","article-title":"Status epilepticus-induced alterations in metabotropic glutamate receptor expression in young and adult rats","volume":"17","author":"Aronica","year":"1997","journal-title":"J Neurosci"},{"issue":"1","key":"2021090608021039400_fcab021-B67","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.brainres.2006.04.124","article-title":"Abnormal mGluR2\/3 expression in the perforant path termination zones and mossy fibers of chronically epileptic rats","volume":"1098","author":"Pacheco Otalora","year":"2006","journal-title":"Brain Res"},{"issue":"31","key":"2021090608021039400_fcab021-B68","doi-asserted-by":"crossref","first-page":"8297","DOI":"10.1523\/JNEUROSCI.1889-07.2007","article-title":"The use of knock-out mice unravels distinct roles for mGlu2 and mGlu3 metabotropic glutamate receptors in mechanisms of neurodegeneration\/neuroprotection","volume":"27","author":"Corti","year":"2007","journal-title":"J Neurosci"},{"issue":"3","key":"2021090608021039400_fcab021-B69","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1111\/epi.13305","article-title":"Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis","volume":"57","author":"Griffin","year":"2016","journal-title":"Epilepsia."},{"issue":"10","key":"2021090608021039400_fcab021-B70","doi-asserted-by":"crossref","first-page":"2055","DOI":"10.1093\/hmg\/ddt056","article-title":"Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures","volume":"22","author":"Lionel","year":"2013","journal-title":"Hum Mol Genet"},{"key":"2021090608021039400_fcab021-B71","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.nbd.2014.02.001","article-title":"Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy","volume":"67","author":"Dejanovic","year":"2014","journal-title":"Neurobiol Dis."},{"issue":"Pt 12","key":"2021090608021039400_fcab021-B72","doi-asserted-by":"crossref","first-page":"3778","DOI":"10.1093\/brain\/awq298","article-title":"Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy","volume":"133","author":"F\u00f6rstera","year":"2010","journal-title":"Brain"},{"issue":"5","key":"2021090608021039400_fcab021-B73","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/cne.22235","article-title":"Initial loss but later excess of GABAergic synapses with dentate granule cells in a rat model of temporal lobe epilepsy","volume":"518","author":"Thind","year":"2010","journal-title":"J Comp Neurol"},{"issue":"1","key":"2021090608021039400_fcab021-B74","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/hipo.20863","article-title":"Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy","volume":"22","author":"de Moura","year":"2012","journal-title":"Hippocampus"},{"issue":"2","key":"2021090608021039400_fcab021-B75","first-page":"44","article-title":"Copy number variation in a hospital-based cohort of children with epilepsy","volume":"22","author":"Vlaskamp","year":"2017","journal-title":"Epilepsia Open"},{"issue":"1\u22122","key":"2021090608021039400_fcab021-B76","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.jns.2013.05.029","article-title":"Role of the mTOR signaling pathway in epilepsy","volume":"332","author":"Meng","year":"2013","journal-title":"J Neurol Sci"},{"issue":"4","key":"2021090608021039400_fcab021-B77","doi-asserted-by":"crossref","first-page":"5674","DOI":"10.18632\/oncotarget.14234","article-title":"mTOR pathway in familial focal epilepsies","volume":"8","author":"Ribierre","year":"2017","journal-title":"Oncotarget"},{"key":"2021090608021039400_fcab021-B78","volume-title":"GeneReviews [Internet]","author":"Revah-Politi","year":"2020"},{"issue":"8","key":"2021090608021039400_fcab021-B79","doi-asserted-by":"crossref","first-page":"a022863","DOI":"10.1101\/cshperspect.a022863","article-title":"Glutamatergic mechanisms associated with seizures and epilepsy","volume":"5","author":"Barker-Haliski","year":"2015","journal-title":"Cold Spring Harbor Perspect Med"},{"issue":"4","key":"2021090608021039400_fcab021-B80","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.neuint.2009.12.021","article-title":"Glutamine synthetase down-regulation reduces astrocyte protection against glutamate excitotoxicity to neurons","volume":"56","author":"Zou","year":"2010","journal-title":"Neurochem Int"},{"issue":"5","key":"2021090608021039400_fcab021-B81","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1111\/nan.12150","article-title":"Review: hippocampal sclerosis in epilepsy: a neuropathology review","volume":"40","author":"Thom","year":"2014","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"2","key":"2021090608021039400_fcab021-B82","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/epi4.12312","article-title":"Histopathologic substrate of drug-resistant epilepsy in older adults and the elderly undergoing surgery","volume":"4","author":"Punia","year":"2019","journal-title":"Epilepsia Open"},{"issue":"12","key":"2021090608021039400_fcab021-B83","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1002\/ar.20969","article-title":"Structural features of ischemic damage in the hippocampus","volume":"292","author":"Nikonenko","year":"2009","journal-title":"Anat Rec (Hoboken, NJ: 2007)"},{"issue":"2","key":"2021090608021039400_fcab021-B84","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1093\/jnen\/73.2.136","article-title":"Hippocampal sclerosis in dementia, epilepsy, and ischemic injury: differential vulnerability of hippocampal subfields","volume":"73","author":"Hatanpaa","year":"2014","journal-title":"J Neuropathol Exp Neurol"},{"issue":"11","key":"2021090608021039400_fcab021-B85","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/S1474-4422(17)30343-5","article-title":"Pathology and hippocampal atrophy in Alzheimer's disease","volume":"16","author":"Halliday","year":"2017","journal-title":"Lancet Neurol"},{"issue":"10","key":"2021090608021039400_fcab021-B86","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/S1474-4422(18)30309-0","article-title":"The hippocampus in multiple sclerosis","volume":"17","author":"Rocca","year":"2018","journal-title":"Lancet Neurol"},{"key":"2021090608021039400_fcab021-B87","doi-asserted-by":"crossref","first-page":"330","DOI":"10.3389\/fneur.2019.00330","article-title":"Long-term memory dysfunction in limbic encephalitis","volume":"10","author":"Hansen","year":"2019","journal-title":"Front Neurol"},{"issue":"1","key":"2021090608021039400_fcab021-B88","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1093\/brain\/awz381","article-title":"Alzheimer-like amyloid and tau alterations associated with cognitive deficit in temporal lobe epilepsy","volume":"143","author":"Gourmaud","year":"2020","journal-title":"Brain"},{"key":"2021090608021039400_fcab021-B89","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.neuroscience.2015.07.084","article-title":"The hippocampus in aging and disease: from plasticity to vulnerability","volume":"309","author":"Bartsch","year":"2015","journal-title":"Neuroscience"},{"issue":"Suppl 2","key":"2021090608021039400_fcab021-B90","doi-asserted-by":"crossref","first-page":"S13","DOI":"10.1111\/j.1528-1157.2000.tb01520.x","article-title":"Is epilepsy a progressive disease? The neurobiological consequences of epilepsy","volume":"41","author":"Cole","year":"2000","journal-title":"Epilepsia"},{"issue":"2","key":"2021090608021039400_fcab021-B91","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s004010051067","article-title":"Synaptophysin immunoreactivity in temporal lobe epilepsy-associated hippocampal sclerosis","volume":"98","author":"Looney","year":"1999","journal-title":"Acta Neuropathol"},{"issue":"8","key":"2021090608021039400_fcab021-B92","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.braindev.2013.01.006","article-title":"Mitochondrial disease and epilepsy","volume":"35","author":"Kang","year":"2013","journal-title":"Brain Dev."},{"key":"2021090608021039400_fcab021-B93","first-page":"217","article-title":"Clinical features and genetics of myoclonic epilepsy with ragged red fibers","volume":"89","author":"DiMauro","year":"2002","journal-title":"Adv Neurol"},{"issue":"27","key":"2021090608021039400_fcab021-B94","doi-asserted-by":"crossref","first-page":"24314","DOI":"10.1074\/jbc.M301530200","article-title":"Proteomic consequences of a human mitochondrial tRNA mutation beyond the frame of mitochondrial translation","volume":"278","author":"Tryoen-Toth","year":"2003","journal-title":"J Biol Chem"},{"issue":"5","key":"2021090608021039400_fcab021-B95","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1469-8749.2011.04214.x","article-title":"Mitochondrial disease and epilepsy","volume":"54","author":"Rahman","year":"2012","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"2021090608021039400_fcab021-B96","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.expneurol.2009.02.014","article-title":"Mitochondrial involvement in temporal lobe epilepsy","volume":"218","author":"Kudin","year":"2009","journal-title":"Exp Neurol"},{"key":"2021090608021039400_fcab021-B97","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.freeradbiomed.2013.02.002","article-title":"Mitochondrial involvement and oxidative stress in temporal lobe epilepsy","volume":"62","author":"Rowley","year":"2013","journal-title":"Free Radic Biol Med"},{"issue":"2","key":"2021090608021039400_fcab021-B98","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/s00401-016-1561-1","article-title":"Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy","volume":"132","author":"Volmering","year":"2016","journal-title":"Acta Neuropathol"},{"key":"2021090608021039400_fcab021-B99","doi-asserted-by":"crossref","first-page":"312","DOI":"10.3389\/fnins.2017.00312","article-title":"Accumulating evidence for axonal translation in neuronal homeostasis","volume":"11","author":"Spaulding","year":"2017","journal-title":"Front Neurosci"},{"key":"2021090608021039400_fcab021-B100","doi-asserted-by":"crossref","first-page":"106282","DOI":"10.1016\/j.eplepsyres.2020.106282","article-title":"Therapeutic role of targeting mTOR signaling and neuroinflammation in epilepsy","volume":"161","author":"Hodges","year":"2020","journal-title":"Epilepsy Res"},{"issue":"10","key":"2021090608021039400_fcab021-B101","doi-asserted-by":"crossref","first-page":"4207","DOI":"10.1172\/JCI127032","article-title":"Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy","volume":"129","author":"Kim","year":"2019","journal-title":"J Clin Invest"},{"issue":"1","key":"2021090608021039400_fcab021-B102","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s12868-016-0308-1","article-title":"mTOR and MAPK: from localized translation control to epilepsy","volume":"17","author":"Pernice","year":"2016","journal-title":"BMC Neurosci"},{"issue":"7","key":"2021090608021039400_fcab021-B103","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0165-6147(00)01678-3","article-title":"G-protein-coupled receptors and signaling networks: emerging paradigms","volume":"22","author":"Marinissen","year":"2001","journal-title":"Trends Pharmacol Sci."},{"key":"2021090608021039400_fcab021-B104","doi-asserted-by":"crossref","first-page":"101682","DOI":"10.1016\/j.pneurobio.2019.101682","article-title":"G protein-coupled receptors in acquired epilepsy: druggability and translatability","volume":"183","author":"Yu","year":"2019","journal-title":"Prog Neurobiol"},{"issue":"5","key":"2021090608021039400_fcab021-B105","doi-asserted-by":"crossref","first-page":"e106","DOI":"10.1212\/NXG.0000000000000106","article-title":"Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability","volume":"2","author":"Steinrucke","year":"2016","journal-title":"Neurol Genet"},{"issue":"6","key":"2021090608021039400_fcab021-B106","first-page":"1078","article-title":"Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans","volume":"26","author":"Lohmann","year":"2017","journal-title":"Hum Mol Genet"},{"issue":"7","key":"2021090608021039400_fcab021-B107","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1002\/mds.27708","article-title":"Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation","volume":"34","author":"Jones","year":"2019","journal-title":"Mov Dis"},{"issue":"2","key":"2021090608021039400_fcab021-B108","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.braindev.2019.10.006","article-title":"Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms","volume":"42","author":"Endo","year":"2020","journal-title":"Brain Dev"},{"key":"2021090608021039400_fcab021-B109","first-page":"697235","author":"Colombo","year":"2019","journal-title":"G Protein-Coupled Potassium Channels Implicated in Mouse and Cellular Models of GNB1 Encephalopathy"},{"issue":"4","key":"2021090608021039400_fcab021-B110","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1124\/mol.117.111062","article-title":"G protein-coupled receptors as targets for approved drugs: how many targets and how many drugs?","volume":"93","author":"Sriram","year":"2018","journal-title":"Mol Pharmacol"},{"issue":"1","key":"2021090608021039400_fcab021-B111","doi-asserted-by":"crossref","first-page":"3","DOI":"10.2174\/1568026053386962","article-title":"Mechanisms of action of antiepileptic drugs","volume":"5","author":"Czapi\u0144ski","year":"2005","journal-title":"Curr Topics Med Chem"}],"container-title":["Brain Communications"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/braincomms\/advance-article-pdf\/doi\/10.1093\/braincomms\/fcab021\/36461590\/fcab021.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/braincomms\/article-pdf\/3\/2\/fcab021\/40312041\/fcab021.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/braincomms\/article-pdf\/3\/2\/fcab021\/40312041\/fcab021.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T04:54:12Z","timestamp":1697950452000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/braincomms\/article\/doi\/10.1093\/braincomms\/fcab021\/6159319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,9]]},"references-count":111,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,4,5]]}},"URL":"https:\/\/doi.org\/10.1093\/braincomms\/fcab021","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.07.21.209163","asserted-by":"object"}]},"ISSN":["2632-1297"],"issn-type":[{"value":"2632-1297","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,4,1]]},"published":{"date-parts":[[2021,3,9]]},"article-number":"fcab021"}}