{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:16:54Z","timestamp":1789179414270,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,4,24]],"date-time":"2014-04-24T00:00:00Z","timestamp":1398297600000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>\n                    Loss\u2010of\u2010function mutations in the\n                    <jats:italic>FOLR1<\/jats:italic>\n                    gene (MIM *136430), encoding the folate receptor alpha, impair cerebral folate transport and lead to a progressive neurometabolic disorder. We report on a 5\u2010year\u2010old boy with progressive ataxia, from the age of 2 years and 6 months, with myoclonic jerks, regression, and impressive myoclonic tonic spasms with drop attacks, which were partially provoked by touching his face or washing his hands. Delayed myelination and cerebellar atrophy on cranial MRI were important clues to the diagnosis of cerebral folate transport deficiency, which was confirmed by homozygosity for the known nonsense mutation p.R204X in the\n                    <jats:italic>FOLR1<\/jats:italic>\n                    gene. Computed tomography taken after head injury revealed bilateral calcifications in the basal ganglia as a novel finding in a patient with\n                    <jats:italic>FOLR1<\/jats:italic>\n                    mutation. [\n                    <jats:italic>Published with video sequences<\/jats:italic>\n                    ]\n                  <\/jats:p>","DOI":"10.1684\/epd.2014.0629","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T09:24:44Z","timestamp":1564737884000},"page":"88-92","source":"Crossref","is-referenced-by-count":24,"title":["Sensory stimulus\u2010sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency"],"prefix":"10.1002","volume":"16","author":[{"given":"Sandra P","family":"Toelle","sequence":"first","affiliation":[{"name":"Division of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Wille","sequence":"additional","affiliation":[{"name":"Division of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Division of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ianina","family":"Scheer","sequence":"additional","affiliation":[{"name":"Division of Diagnostic Imaging"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Th\u00f6ny","sequence":"additional","affiliation":[{"name":"Division of Metabolism, Chemistry and Biochemistry University Children's Hospital Zurich  Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Plecko","sequence":"additional","affiliation":[{"name":"Division of Neurology"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/978-3-540-76698-8_28","volume-title":"Pterins and related enzymes. 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