{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T20:23:16Z","timestamp":1775161396262,"version":"3.50.1"},"reference-count":7,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,4,16]]},"abstract":"<jats:p>Joubert syndrome and related disorders comprise a subgroup of ciliopathies defined by the presence of the \u2018molar tooth sign\u2019, a midbrain-hindbrain malformation identifiable by neuroimaging. Characteristically, the corticospinal tract and superior cerebellar peduncles do not decussate. Epileptic seizures are uncommon. We present a case of a 28-year-old man with a background of Leber's congenital amaurosis with nephronophthisis, requiring kidney transplantation, and mental retardation, who developed epileptic seizures consisting of a short muffled cry and involuntary shaking movements of the extremities beginning in the left upper limb; these episodes lasted several seconds and occurred in clusters. Simultaneous video-EEG recording showed an ictal pattern in the left frontal lobe. Brain MRI revealed the pathognomonic \u2018molar tooth sign\u2019; diffusion tensor imaging (DTI)-tractography showed a lack of decussation of both corticospinal tracts. To the best of our knowledge, this is the first time that DTI-tractography has been used to uncover the anatomical substrate underlying the semiology of epileptic seizures.<\/jats:p>","DOI":"10.1136\/bcr-2014-207719","type":"journal-article","created":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T08:34:38Z","timestamp":1432283678000},"page":"bcr2014207719","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Uncrossed epileptic seizures in Joubert syndrome"],"prefix":"10.1136","volume":"2015","author":[{"given":"Pedro","family":"L\u00f3pez Ruiz","sequence":"first","affiliation":[{"name":"Department of Neurology, Hospital Cl\u00ednico San Carlos, Madrid, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Eugenia","family":"Garc\u00eda Garc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Cl\u00ednico San Carlos, Madrid, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Dicapua Sacoto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Cl\u00ednico San Carlos, Madrid, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Marcos-Dolado","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Cl\u00ednico San Carlos, Madrid, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,5,22]]},"reference":[{"key":"2025082802210666000_2015.may22_2.bcr2014207719.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"2025082802210666000_2015.may22_2.bcr2014207719.2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70136-4"},{"key":"2025082802210666000_2015.may22_2.bcr2014207719.3","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ajmg.c.30229","article-title":"Clinical and molecular features of Joubert syndrome and related disorders","volume":"151C","author":"Parisi","year":"2009","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025082802210666000_2015.may22_2.bcr2014207719.4","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A0703"},{"key":"2025082802210666000_2015.may22_2.bcr2014207719.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-012-2428-9"},{"key":"2025082802210666000_2015.may22_2.bcr2014207719.6","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-006-0146-x"},{"key":"2025082802210666000_2015.may22_2.bcr2014207719.7","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1287763"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2014-207719","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:21:11Z","timestamp":1756372871000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2014-207719"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,22]]},"references-count":7,"alternative-id":["10.1136\/bcr-2014-207719"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2014-207719","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,22]]}}}