{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T21:08:03Z","timestamp":1790716083159,"version":"4.1.0"},"reference-count":0,"publisher":"Akademiai Kiado Zrt.","issue":"21","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p> Abstract: <\/jats:p><jats:p> The advances in molecular genetic methods has lead to the discovery of the genetic alterations that underlie the etiology of most diseases previously held to be idiopathic. Targeted genetic examination of a pediatric male patient showing a normal intellect, an extended area of skin hypopigmentation, and suffering from generalized epilepsy displaying a switch in epilepsy syndrome during the course of the disease towards a neurocutaneous syndrome was unsuccessful. Whole-exome sequencing identified a heterozygous missense mutation in a potassium chloride cotransporter gene, which together with the phenotype underscores the diagnosis of an epilepsy syndrome known in the literature as idiopathic generalized epilepsy type 14. Orv Hetil. 2019; 160(21): 835\u2013838. <\/jats:p>","DOI":"10.1556\/650.2019.31404","type":"journal-article","created":{"date-parts":[[2019,5,19]],"date-time":"2019-05-19T08:44:07Z","timestamp":1558255447000},"page":"835-838","source":"Crossref","is-referenced-by-count":10,"title":["Generaliz\u00e1lt epilepszia h\u00e1tter\u00e9ben azonos\u00edtott                     ioncsatorna-g\u00e9nmut\u00e1ci\u00f3 ritka form\u00e1ja"],"prefix":"10.1556","volume":"160","author":[{"given":"\u00c1gnes","family":"Till","sequence":"first","affiliation":[{"name":"Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet,                         P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar P\u00e9cs, J\u00f3zsef A. u. 7., 7623"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e1ta","family":"Szalai","sequence":"additional","affiliation":[{"name":"Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet,                         P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar P\u00e9cs, J\u00f3zsef A. u. 7., 7623"},{"name":"Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont, P\u00e9csi Tudom\u00e1nyegyetem P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Hegyi","sequence":"additional","affiliation":[{"name":"Neurol\u00f3gia Oszt\u00e1ly, Magyar Reform\u00e1tus Egyh\u00e1z Bethesda Gyermekk\u00f3rh\u00e1za Budapest"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erzs\u00e9bet","family":"K\u00f6vesdi","sequence":"additional","affiliation":[{"name":"Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet,                         P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar P\u00e9cs, J\u00f3zsef A. u. 7., 7623"},{"name":"Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont, P\u00e9csi Tudom\u00e1nyegyetem P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gergely","family":"B\u00fcki","sequence":"additional","affiliation":[{"name":"Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet,                         P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar P\u00e9cs, J\u00f3zsef A. u. 7., 7623"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet,                         P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar P\u00e9cs, J\u00f3zsef A. u. 7., 7623"},{"name":"Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont, P\u00e9csi Tudom\u00e1nyegyetem P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[{"name":"Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet,                         P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar P\u00e9cs, J\u00f3zsef A. u. 7., 7623"},{"name":"Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont, P\u00e9csi Tudom\u00e1nyegyetem P\u00e9cs"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","container-title":["Orvosi Hetilap"],"original-title":[],"language":"hu","link":[{"URL":"https:\/\/www.akademiai.com\/doi\/pdf\/10.1556\/650.2019.31404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,19]],"date-time":"2019-05-19T08:44:09Z","timestamp":1558255449000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.akademiai.com\/doi\/10.1556\/650.2019.31404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":0,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1556\/650.2019.31404"],"URL":"https:\/\/doi.org\/10.1556\/650.2019.31404","relation":{},"ISSN":["0030-6002","1788-6120"],"issn-type":[{"value":"0030-6002","type":"print"},{"value":"1788-6120","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5]]}}}