{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,19]],"date-time":"2025-03-19T15:45:22Z","timestamp":1742399122371,"version":"3.37.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Creatine transporter deficiency (CRTR\u2010D) is a rare X\u2010linked inherited disease belonging to the group of cerebral creatine deficiency disorders. Major clinical features include developmental delay and epilepsy. To date, fewer than 200 individuals with CRTR\u2010D have been reported. As a result, there is little evidence for effective treatment. Available therapies are creatine precursors, with a mild effect on disease progression. Concerning epilepsy, standard management is recommended and no specific anti\u2010seizure medication (ASM) has been shown to be effective in refractory cases. We report the case of a 28\u2010year\u2010old male patient with CRTR\u2010D and childhood\u2010onset refractory epilepsy. He had an average of 10\u201320 focal motor seizures with impaired consciousness per month. He had tried several ASMs without significant improvement. Treatment with cannabidiol (CBD) and clobazam (CLB) in combination was added. The patient became seizure\u2010free from the first week, and up to 1\u2009year of follow\u2010up. Behavioral improvement was also noted by his caregivers. No adverse effects were reported. Very few cases of CRTR\u2010D with refractory epilepsy have been reported. This calls for more extensive research and suggests a possible role for CBD in cerebral creatine metabolism and transport and valuable option for future studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Plain Language Summary<\/jats:title><jats:p>Creatine transporter deficiency (CRTR\u2010D) is a rare genetic disorder causing mental, behavioral, and movement problems. More than half of patients also have seizures, but because there are fewer than 200 known cases, it is difficult to know the best treatment options. We present a 28\u2010year\u2010old man with CRTR\u2010D who had severe developmental delays and frequent seizures since childhood, despite trying many medications. After starting cannabidiol and clobazam, he has been seizure\u2010free for a year. Sharing this success might help other people with CRTR\u2010D benefit from similar treatments.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.13116","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T13:35:12Z","timestamp":1734356112000},"page":"342-347","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A\u00a0case report"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7917-3132","authenticated-orcid":false,"given":"Maria","family":"Borrell\u2010Pichot","sequence":"first","affiliation":[{"name":"Neurology Department Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7227-1350","authenticated-orcid":false,"given":"Carmen","family":"Fons","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Sant Joan de D\u00e9u Hospital Barcelona University, Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Boronat","sequence":"additional","affiliation":[{"name":"Epilepsy Unit Hospital Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Child Neurology Unit, Pediatrics Service Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alba","family":"Sierra\u2010Marcos","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Epilepsy Unit Hospital Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-018-0197-3"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01224-8"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2008.02.035"},{"issue":"4","key":"e_1_2_11_5_1","first-page":"1169","article-title":"Creatine activity as a neuromodulator in the central nervous system","volume":"78","author":"Meftahi GH","year":"2023","journal-title":"Arch Razi Inst"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9537-3"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.2000.80.3.1107"},{"key":"#cr-split#-e_1_2_11_8_1.1","unstructured":"Mercimek\u2010AndrewsS SalomonsGS.Creatine deficiency disorders. GeneReviews\u00ae. [Internet]. [Updated 2022 Feb 10]. Seattle (WA): University of Washington Seattle;1993-2024.2009"},{"key":"#cr-split#-e_1_2_11_8_1.2","unstructured":"[cited 2024 Nov 8]. Available from:http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK3794\/"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101658"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.08.016"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9358-9"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9713-8"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2020.1141"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2022.108577"},{"issue":"1","key":"e_1_2_11_15_1","first-page":"S23","article-title":"The role of cannabinoids in epilepsy treatment: a critical review of efficacy results from clinical trials","volume":"22","author":"Nabbout R","year":"2020","journal-title":"Epileptic Disord"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2020.1135"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000521683"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-96"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01148.x"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-43"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12411"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4212-08.2009"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20103\u2010319\u201045541\u20109_4"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2019.03.015"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02142.x"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.13116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T09:13:51Z","timestamp":1738919631000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.13116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,16]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/epi4.13116"],"URL":"https:\/\/doi.org\/10.1002\/epi4.13116","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"type":"print","value":"2470-9239"},{"type":"electronic","value":"2470-9239"}],"subject":[],"published":{"date-parts":[[2024,12,16]]},"assertion":[{"value":"2024-10-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}