{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T10:28:38Z","timestamp":1761560918274},"reference-count":8,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2004,9,29]],"date-time":"2004-09-29T00:00:00Z","timestamp":1096416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2004,10]]},"abstract":"<jats:p><jats:bold>Summary:\u2002<\/jats:bold> We describe the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult\u2010onset arthritis). All affected family members with CCAL experienced seizures in early childhood, usually, but not always, associated with fever. Similarities exist to the syndrome of generalized epilepsy with febrile seizures plus (GEFS+). A mutation within the <jats:italic>ANKH<\/jats:italic> gene on chromosome 5p has been found previously in this family; other patients with familial CCAL (but without seizures) have mutations in the same gene. <jats:italic>ANKH<\/jats:italic> codes for a transmembrane protein involved in the regulation of extracellular pyrophosphate ion levels, although its precise mechanism of action remains unclear. It is highly expressed in the brain, and its expression may be influenced by seizure activity. The mutation within this family creates a premature initiation codon, adding four amino acids to the N\u2010terminus of the protein. We postulate that this may lead to a gain of function, causing seizure susceptibility as well as chondrocalcinosis. Mutations within this gene may underlie other forms of genetic epilepsy and febrile seizures.<\/jats:p>","DOI":"10.1111\/j.0013-9580.2004.19504.x","type":"journal-article","created":{"date-parts":[[2004,9,29]],"date-time":"2004-09-29T13:51:28Z","timestamp":1096465888000},"page":"1258-1260","source":"Crossref","is-referenced-by-count":12,"title":["Autosomal Dominant Early Childhood Seizures Associated with Chondrocalcinosis and a Mutation in the <i>ANKH<\/i> Gene"],"prefix":"10.1111","volume":"45","author":[{"given":"Shane","family":"McKee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian","family":"Pendleton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josh","family":"Dixey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Doherty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,29]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/30.1.10"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1225"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/343054"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/ar143"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.LAB.0000075640.49586.E6"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.479"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/88236"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.69.abs"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.0013-9580.2004.19504.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.0013-9580.2004.19504.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T17:33:12Z","timestamp":1697131992000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.0013-9580.2004.19504.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,29]]},"references-count":8,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["10.1111\/j.0013-9580.2004.19504.x"],"URL":"https:\/\/doi.org\/10.1111\/j.0013-9580.2004.19504.x","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,29]]}}}