دورية أكاديمية
Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions
| العنوان: | Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions |
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| المؤلفون: | van Karnebeek, Clara D M, Sayson, Bryan, Lee, Jessica J Y, Tseng, Laura A, Blau, Nenad, Horvath, Gabriella A, Ferreira, Carlos R |
| المصدر: | van Karnebeek, Clara D M; Sayson, Bryan; Lee, Jessica J Y; Tseng, Laura A; Blau, Nenad; Horvath, Gabriella A; Ferreira, Carlos R (2018). Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions. Frontiers in Neurology, 9:1016. |
| بيانات النشر: | Frontiers Research Foundation |
| سنة النشر: | 2018 |
| المجموعة: | University of Zurich (UZH): ZORA (Zurich Open Repository and Archive |
| مصطلحات موضوعية: | Medical Clinic, 610 Medicine & health, Neurology, Clinical Neurology |
| الوصف: | Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to control seizures, or to decrease the risk of neurodegeneration. We translate the currently-known literature on metabolic etiologies of epilepsy (268 inborn errors of metabolism belonging to 21 categories, with 74 treatable errors), into a 2-tiered diagnostic algorithm, with the first-tier comprising accessible, affordable, and less invasive screening tests in urine and blood, with the potential to identify the majority of treatable conditions, while the second-tier tests are ordered based on individual clinical signs and symptoms. This resource aims to support the pediatrician, neurologist, biochemical, and clinical geneticists in early identification of treatable inborn errors of metabolism in a child with seizures, allowing for timely initiation of targeted therapy with the potential to improve outcomes. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | German |
| تدمد: | 1664-2295 |
| العلاقة: | https://www.zora.uzh.ch/id/eprint/161470/1/ZORA161470.pdfTest; info:pmid/30559706; urn:issn:1664-2295 |
| DOI: | 10.5167/uzh-161470 |
| DOI: | 10.3389/fneur.2018.01016 |
| الإتاحة: | https://doi.org/10.5167/uzh-16147010.3389/fneur.2018.01016Test https://www.zora.uzh.ch/id/eprint/161470Test/ https://www.zora.uzh.ch/id/eprint/161470/1/ZORA161470.pdfTest |
| حقوق: | info:eu-repo/semantics/openAccess ; Creative Commons: Attribution 4.0 International (CC BY 4.0) ; http://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.856D18CA |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 16642295 |
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| DOI: | 10.5167/uzh-161470 |