{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T06:30:47Z","timestamp":1791181847450,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,12,28]],"date-time":"2001-12-28T00:00:00Z","timestamp":1009497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We evaluated a kindred with X\u2010linked mental retardation and epilepsy. Seven affected males with mild to moderate mental retardation developed seizures (primarily generalized, tonic\u2013clonic, and atonic) that began on average at 6.8 months of age (range, 4 to 14 months). These patients did not have a history of infantile spasms. There were no dysmorphic features. Other than mental retardation, the neurological examination was unremarkable, with exception of 2 affected subjects who had mild generalized rigidity and ataxia. We identified tight linkage to a group of markers on Xp21.1\u2013p11.4. A maximum two\u2010point LOD score of +3.83 at \u03b8 = 0 was obtained for markers DXS8090, DXS1069, DXS8102, and DXS8085. This locus spans 7.7cM between DXS1049 and DXS8054 and does not overlap the locus for X\u2010linked West syndrome. The tetraspanin gene, implicated in nonspecific mental retardation, is mapped to this region. We sequenced the tetraspanin coding sequence in subjects with X\u2010linked mental retardation and epilepsy and did not identify disease\u2010specific mutations. The syndrome we describe, designated X\u2010linked mental retardation and epilepsy, is clinically and genetically distinct from X\u2010linked West syndrome and other X\u2010linked mental retardation\u2013epilepsy syndromes.<\/jats:p>","DOI":"10.1002\/ana.10051","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:30:43Z","timestamp":1030293043000},"page":"45-50","source":"Crossref","is-referenced-by-count":33,"title":["Novel mental retardation\u2013epilepsy syndrome linked to Xp21.1\u2013p11.4"],"prefix":"10.1002","volume":"51","author":[{"given":"Peter","family":"Hedera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Alvarado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Beydoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John K.","family":"Fink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,12,31]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070407"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200603"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200548"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380206"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80649-3"},{"key":"e_1_2_6_7_2","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1542\/peds.50.2.181","article-title":"Kinky hair disease","volume":"50","author":"Menkes JH","year":"1972","journal-title":"Pediatrics"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.11.875"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-199504000-00010"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420313"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550305.x"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/72829"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/302258"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0142716400010043"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<89::AID-AJMG16>3.0.CO;2-O"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.10.2.157"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5350.509"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(99)00048-0"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10051","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10051","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T12:26:37Z","timestamp":1697027197000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10051"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12,31]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1002\/ana.10051"],"URL":"https:\/\/doi.org\/10.1002\/ana.10051","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,12,31]]}}}