{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T09:49:36Z","timestamp":1762768176883,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T00:00:00Z","timestamp":1762646400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"PNRR Funding","award":["PNRR-MR1\u20132022-12376284"],"award-info":[{"award-number":["PNRR-MR1\u20132022-12376284"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Objectives: To investigate the clinical value of cerebrospinal fluid (CSF) testing for biogenic amine, pterins, amino acids, and folates in paediatric onset epilepsies. Methods: Retrospective clinical and biochemical phenotyping of patients with epilepsy who underwent diagnostic CSF measurement of monoamine neurotransmitters, pterins, folates, and amino acids between 2009 and 2022. Results: The studied cohort included 123 patients with epilepsy (mean age at the procedure: 4.54 \u00b1 3.65 years). The diagnostic yield for primary neurotransmitter disorders was 1.68% and zero for inherited amino acid and folate metabolism disorders. Patients with higher seizure frequency showed higher levels of CSF homovanillic acid (HVA) and HVA\/5-hydroxyindolacetic acid (5HIAA) ratio. Lower levels of 3-O-methyldopa (3-OMD) were found in patients with co-occurring neurodevelopmental disorders, and lower levels of biopterin, 3-methoxy-4-hydroxyphenylglycol (3-MHPG) and 5-methyltetrahydrofolate (5-MTHF) in those with movement disorders. Significantly lower CSF glutamine levels were found in patients receiving antiseizure medications as polytherapy. Patients with a history of status epilepticus had significantly lower levels of CSF aspartic acid, glycine, leucine, ornithine, and valine, and higher levels of CSF serine. Conclusions: CSF analysis disclosed differences in the concentrations of various metabolites that might be related to the severity of the epilepsy, the presence of comorbid conditions, and medications.<\/jats:p>","DOI":"10.3390\/children12111514","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T08:57:55Z","timestamp":1762765075000},"page":"1514","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7664-5807","authenticated-orcid":false,"given":"Mario","family":"Mastrangelo","sequence":"first","affiliation":[{"name":"Department of Woman\/Child Health and Urological Sciences, Sapienza University of Rome, 00185 Rome, Italy"},{"name":"Unit of Child Neurology and Psychiatry, Department of Neuroscience\/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0515-9208","authenticated-orcid":false,"given":"Claudia","family":"Carducci","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, Sapienza-University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2012-8410","authenticated-orcid":false,"given":"Filippo","family":"Manti","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Neuroscience\/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy"},{"name":"Department of Human Neuroscience, Sapienza-University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0686-2499","authenticated-orcid":false,"given":"Giacomina","family":"Ricciardi","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, Sapienza-University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Bove","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, Sapienza-University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1083-5576","authenticated-orcid":false,"given":"Francesco","family":"Pisani","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry, Department of Neuroscience\/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto I, 00161 Rome, Italy"},{"name":"Department of Human Neuroscience, Sapienza-University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2314-6139","authenticated-orcid":false,"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"Department of Human Neuroscience, Sapienza-University of Rome, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.4103\/JPN.JPN_160_16","article-title":"Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy","volume":"13","author":"Mastrangelo","year":"2018","journal-title":"J. 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