Epilepsy CurrentsPub Date : 2025-04-03DOI: 10.1177/15357597251317898
Kevin Jiang, Lu-Tang Yang, Mingshan Xue
{"title":"Breaking the Synaptic Vesicle Cycle: Mechanistic Insights into Presynaptic Dysfunctions in Epilepsy.","authors":"Kevin Jiang, Lu-Tang Yang, Mingshan Xue","doi":"10.1177/15357597251317898","DOIUrl":"10.1177/15357597251317898","url":null,"abstract":"<p><p>Synaptic dysfunction is a hallmark of many neurological disorders including epilepsy. An increasing number of epilepsy-causing pathogenic variants are being identified in genes encoding presynaptic proteins that affect every step of the synaptic vesicle cycle, from vesicle loading, tethering, docking, priming, calcium sensing, fusing, to recycling. These different molecular dysfunctions result in converging impairment of presynaptic neurotransmitter release, yet lead to diverse epileptic disorders. This review focuses on representative monogenic epileptic disorders caused by pathogenic variants of key presynaptic proteins involved in different stages of the synaptic vesicle cycle: SYN1 (vesicle pool regulation), STXBP1 (vesicle docking, priming, and fusion), and DNM1 (vesicle recycling). We discuss the molecular, synaptic, and circuit mechanisms of these archetypal synaptic vesicle exocytosis and endocytosis-related epilepsies and highlight the diversity and commonality of their presynaptic dysfunctions. We further discuss future avenues of research to better connect distinct presynaptic alterations to epileptogenesis and develop novel therapeutic approaches.</p>","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251317898"},"PeriodicalIF":5.8,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-04-03DOI: 10.1177/15357597251324016
Danielle M Andrade
{"title":"Out with prolactin, in with neurofilament light and glial fibrillary acidic protein.","authors":"Danielle M Andrade","doi":"10.1177/15357597251324016","DOIUrl":"10.1177/15357597251324016","url":null,"abstract":"","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251324016"},"PeriodicalIF":5.8,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-04-01DOI: 10.1177/15357597251325685
Wayne N Frankel
{"title":"Epilepsy Gene Discovery Needs Another Big Leap Forward.","authors":"Wayne N Frankel","doi":"10.1177/15357597251325685","DOIUrl":"10.1177/15357597251325685","url":null,"abstract":"","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251325685"},"PeriodicalIF":5.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-04-01DOI: 10.1177/15357597251328822
Carrie R McDonald
{"title":"Is Bigger Better? Exploring the Compensatory Versus Pathological Nature of Amygdala Hypertrophy.","authors":"Carrie R McDonald","doi":"10.1177/15357597251328822","DOIUrl":"10.1177/15357597251328822","url":null,"abstract":"","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251328822"},"PeriodicalIF":5.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11966622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-03-28DOI: 10.1177/15357597251324024
John D Rolston
{"title":"Comprehensive Epilepsy Care: The Key to Cutting Costs and Seizing Better Outcomes.","authors":"John D Rolston","doi":"10.1177/15357597251324024","DOIUrl":"10.1177/15357597251324024","url":null,"abstract":"","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251324024"},"PeriodicalIF":5.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-03-28DOI: 10.1177/15357597251324032
Vineet Punia
{"title":"SEEG Radiofrequency Thermocoagulation and Memory: For Now, Avoid the Trap of Overpromising and Underdelivering.","authors":"Vineet Punia","doi":"10.1177/15357597251324032","DOIUrl":"10.1177/15357597251324032","url":null,"abstract":"","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251324032"},"PeriodicalIF":5.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11954162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-03-25DOI: 10.1177/15357597251324034
Yinchen Song, L David Klemens, Hallie Orton, Audrey Kennedy, Jana E Jones, Sucheta Joshi, Meghann Kelly
{"title":"Navigating Transition to Adulthood in Epilepsy Patients: A Multidisciplinary Approach.","authors":"Yinchen Song, L David Klemens, Hallie Orton, Audrey Kennedy, Jana E Jones, Sucheta Joshi, Meghann Kelly","doi":"10.1177/15357597251324034","DOIUrl":"10.1177/15357597251324034","url":null,"abstract":"<p><p>The transition from pediatric to adult healthcare systems is a critical yet complex process for individuals with epilepsy, requiring careful attention to both medical and psychosocial aspects. This review highlights best practices and strategies to facilitate effective transitions, focusing on the roles of multidisciplinary teams, communication strategies, shared decision-making, and transition readiness assessment. Key topics include early and ongoing communication, promoting patient autonomy, addressing mental health comorbidities, and implementing transition readiness assessments such as the Epilepsy Transition Readiness Assessment Questionnaire (EpiTRAQ). Additionally, the review evaluates models for transition clinics, emphasizing the importance of sustainability, collaboration, and tailored interventions. By leveraging these insights, healthcare professionals can support young adults with epilepsy in achieving independence and optimal health outcomes as they navigate the challenges of transitioning to adult care.</p>","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251324034"},"PeriodicalIF":5.8,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-03-25DOI: 10.1177/15357597251321926
Aaron E L Warren, Anup D Patel, J Helen Cross, Dave F Clarke, Linda J Dalic, Zachary M Grinspan, Gabrielle Conecker, Juliet K Knowles
{"title":"Mobilizing a New Era in Lennox-Gastaut Syndrome Treatment and Prevention.","authors":"Aaron E L Warren, Anup D Patel, J Helen Cross, Dave F Clarke, Linda J Dalic, Zachary M Grinspan, Gabrielle Conecker, Juliet K Knowles","doi":"10.1177/15357597251321926","DOIUrl":"10.1177/15357597251321926","url":null,"abstract":"<p><p>This review summarizes content presented at the Pediatric State of the Art Symposium held during the American Epilepsy Society's annual meeting in December 2024. The symposium focused on Lennox-Gastaut syndrome (LGS), a severe developmental and epileptic encephalopathy that emerges in childhood. Despite its diverse etiologies, LGS is defined by a convergent constellation of electroclinical features: multiple seizure types including tonic seizures, slow spike-wave and generalized paroxysmal fast activity on EEG, and intellectual disability. LGS is almost always refractory to available therapies and accounts for substantial costs-in healthcare spending and in quality of life for affected individuals, their families, and caregivers. The symposium highlighted recent breakthroughs in research, clinical care, and outcome measurement that have positioned the clinical, scientific, and patient advocacy communities to usher in a new, more hopeful era of treatment and prevention.</p>","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251321926"},"PeriodicalIF":5.8,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-03-25DOI: 10.1177/15357597251320190
Sara Eyal
{"title":"Commentary: Therapeutic Seizure Monitoring: A Closed-Loop Device for Direct Delivery of Antiseizure Therapeutics.","authors":"Sara Eyal","doi":"10.1177/15357597251320190","DOIUrl":"10.1177/15357597251320190","url":null,"abstract":"","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251320190"},"PeriodicalIF":5.8,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epilepsy CurrentsPub Date : 2025-03-25DOI: 10.1177/15357597251320142
Rodney C Scott, Jenny Hsieh, Amy McTague, J Matthew Mahoney, Catherine A Christian-Hinman
{"title":"Merritt-Putnam Symposium | Developmental and Epileptic Encephalopathies-Current Concepts and Novel Approaches.","authors":"Rodney C Scott, Jenny Hsieh, Amy McTague, J Matthew Mahoney, Catherine A Christian-Hinman","doi":"10.1177/15357597251320142","DOIUrl":"10.1177/15357597251320142","url":null,"abstract":"<p><p>Developmental and epileptic encephalopathies (DEEs) are among the most severe and difficult to treat epilepsies. Two broad strategies for understanding the etiology and impacts of DEEs include genetic and complex adaptive systems approaches. This review, inspired by the 2024 Merritt-Putnam Symposium, describes current perspectives of DEE, identifies limitations of current views, and discusses potential novel ways forward. First, we discuss the rationale for a reevaluation of the role of seizures in the pathogenesis of cognitive and behavioral impairments in DEE. Second, we discuss newly emerging methods employing neural organoids to study brain development and DEE in vitro. Third, we present recent precision therapy approaches for the clinical treatment of DEE. Lastly, we discuss computational systems approaches to understanding the genetic landscape of DEE. The severe and multifaceted impacts of DEE and associated comorbidities underscore the necessity of novel interdisciplinary approaches to produce an improved understanding of etiology and more effective treatment strategies.</p>","PeriodicalId":11742,"journal":{"name":"Epilepsy Currents","volume":" ","pages":"15357597251320142"},"PeriodicalIF":5.8,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}