{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T03:59:08Z","timestamp":1779335948384,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,5,21]],"date-time":"2012-05-21T00:00:00Z","timestamp":1337558400000},"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 Human Genetics"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies characterized by myoclonus, seizures and progressive neurological symptoms.<\/jats:p><jats:p>The index patient was a 6\u2010year old boy showing early\u2010onset therapy resistant PME and severe developmental delay. Genome\u2010wide linkage analysis identified several candidate regions. The potassium channel tetramerization domain containing 7 gene (<jats:italic>KCTD7<\/jats:italic>) in the 7q11.21 linkage region emerged as a suitable candidate. Sequence analysis revealed a novel homozygous missense mutation (p.R94W) in a highly conserved segment of exon 2.<\/jats:p><jats:p>This is the second family with PME caused by <jats:italic>KCTD7<\/jats:italic> mutations, hence <jats:italic>KCTD7<\/jats:italic> mutations might be a recurrent cause of PME.<\/jats:p>","DOI":"10.1111\/j.1469-1809.2012.00710.x","type":"journal-article","created":{"date-parts":[[2012,5,21]],"date-time":"2012-05-21T09:05:55Z","timestamp":1337591155000},"page":"326-331","source":"Crossref","is-referenced-by-count":34,"title":["Novel Mutation in Potassium Channel related Gene <i>KCTD7<\/i> and Progressive Myoclonic Epilepsy"],"prefix":"10.1111","volume":"76","author":[{"given":"Birgit","family":"Krabichler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Rostasy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Karall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Scholl\u2010B\u00fcrgi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"Schwarzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kurt","family":"Gautsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Spreiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Kotzot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Fauth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edda","family":"Haberlandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,5,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/17.8.742"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng786"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/sj.bjp.0707746","article-title":"Guide to receptors and channels (GRAC), 3rd edition","volume":"153","author":"Alexander S. P.","year":"2008","journal-title":"Br J Pharmacol"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-011-8194-0"},{"key":"e_1_2_7_7_1","first-page":"385","article-title":"Time\u2010 and voltage\u2010dependent modulation of a Kv1.4 channel by a beta\u2010subunit (Kv beta 3) cloned from ferret ventricle","volume":"269","author":"Castellino R. C.","journal-title":"Am J Physiol"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-010-5641-1"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400690101"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1056"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2003.02141.x"},{"key":"e_1_2_7_12_1","first-page":"209","article-title":"Antimyoclonic effect of levetiracetam","volume":"2","author":"Genton P.","year":"2000","journal-title":"Epileptic Disord"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(03)00341-1"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1005-1015"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2008.09.006"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(03)00211-4"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308347100"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2010.190652"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.17.6550-6567.2000"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.22610"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)00088-X"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/301904"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01959"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/psc.1366"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2008.09.016"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/369289a0"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti264"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(05)70043-0"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.11.143"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21121"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-1809.2012.00710.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-1809.2012.00710.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T10:48:55Z","timestamp":1698749335000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-1809.2012.00710.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,21]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["10.1111\/j.1469-1809.2012.00710.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-1809.2012.00710.x","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,21]]}}}