{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:48:50Z","timestamp":1757612930479,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2023,8,23]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>A 25-year-old woman with childhood-onset refractory epilepsy and developmental delay experienced a gradually progressive marked deterioration in mobility and seizure control, with language regression. Investigation identified a homozygous deletion within the contactin-associated protein-like 2 gene (<jats:italic>CNTNAP2<\/jats:italic>), underlying her early presentation, but also cerebral folate deficiency that most likely contributed to her later deterioration. Following antiseizure medication adjustment and treatment with folinic acid, she stabilised with improved seizure control and limited improvement in language and motor function; she has remained neurologically stable for more than a decade. That the previously observed neurological decline was halted by folinic acid replacement supports this being due to cerebral folate deficiency. Metabolic conditions are less well recognised in adults and can be under-diagnosed. They are potentially treatable and should be considered even in the presence of another cause, particularly when the presentation is not fully compatible.<\/jats:p>","DOI":"10.1136\/pn-2023-003727","type":"journal-article","created":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T13:20:35Z","timestamp":1703251235000},"page":"56-59","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay"],"prefix":"10.1136","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9546-0197","authenticated-orcid":false,"given":"Fahmida Amin","family":"Chowdhury","sequence":"first","affiliation":[{"name":"Neurology, National Hospital for Neurology and Neurosurgery, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1509-9416","authenticated-orcid":false,"given":"Elisaveta","family":"Sokolov","sequence":"additional","affiliation":[{"name":"Department of a Clinical Neurophysiology, Guy's and St Thomas' Hospitals NHS Trust, London, UK"},{"name":"Department of Neurosciences, Cleveland Clinic London Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Anderson","sequence":"additional","affiliation":[{"name":"Department of Medicine, Logan Hospital, Queensland, Australia, Logan Hospital, Loganholme, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dragana J","family":"Josifova","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Guy\u2019s and St Thomas\u2019 NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3446-5987","authenticated-orcid":false,"given":"Lina","family":"Nashef","sequence":"additional","affiliation":[{"name":"Department of Neurology, King s College Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,12,22]]},"reference":[{"key":"2025090409480723000_24.1.56.1","doi-asserted-by":"crossref","DOI":"10.1186\/s12881-016-0272-8","article-title":"Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment","volume":"17","author":"Rodenas-Cuadrado","year":"2016","journal-title":"BMC Med Genet"},{"key":"2025090409480723000_24.1.56.2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.100"},{"key":"2025090409480723000_24.1.56.3","doi-asserted-by":"publisher","DOI":"10.1159\/000456021"},{"key":"2025090409480723000_24.1.56.4","doi-asserted-by":"crossref","DOI":"10.3390\/nu14153096","article-title":"Cerebral folate deficiency syndrome: early diagnosis, intervention and treatment strategies","volume":"14","author":"Ramaekers","year":"2022","journal-title":"Nutrients"},{"key":"2025090409480723000_24.1.56.5","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9159-6"},{"key":"2025090409480723000_24.1.56.6","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162204001471"},{"key":"2025090409480723000_24.1.56.7","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws122"},{"key":"2025090409480723000_24.1.56.8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa043160"},{"key":"2025090409480723000_24.1.56.9","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1002\/jimd.12092","article-title":"Cerebral folate deficiency: analytical tests and differential diagnosis","volume":"42","author":"Pope","year":"2019","journal-title":"J Inherit Metab Dis"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2023-003727","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T16:48:13Z","timestamp":1757004493000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2023-003727"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,22]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,23]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/pn-2023-003727"],"URL":"https:\/\/doi.org\/10.1136\/pn-2023-003727","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2023,12,22]]}}}