{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T08:59:11Z","timestamp":1774256351089,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,6,29]],"date-time":"2016-06-29T00:00:00Z","timestamp":1467158400000},"content-version":"vor","delay-in-days":28,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Aim. KCNH1<\/jats:italic> mutations have been identified in patients with Zimmermann\u2010Laband syndrome and Temple\u2010Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo\/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with <jats:italic>KCNH1<\/jats:italic> mutations.<\/jats:p><jats:p><jats:italic>Methods<\/jats:italic>. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in <jats:italic>KCNH1<\/jats:italic> were obtained from referring centres.<\/jats:p><jats:p><jats:italic>Results<\/jats:italic>. Epilepsy was present in 7\/9 patients. Both generalized and focal tonic\u2010clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2\/7 patients; polytherapy was required in 4\/7 patients. Status epilepticus occurred in 4\/7 patients. EEG showed a diffusely slow background in 7\/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient.<\/jats:p><jats:p><jats:italic>Conclusions<\/jats:italic>. Epilepsy is a key phenotypic feature in most individuals with <jats:italic>KCNH1<\/jats:italic>\u2010related syndromes, suggesting a direct role of <jats:italic>KCNH1<\/jats:italic> in epileptogenesis, although the underlying mechanism is not understood.<\/jats:p>","DOI":"10.1684\/epd.2016.0830","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"123-136","source":"Crossref","is-referenced-by-count":46,"title":["Epilepsy in <i>KCNH1<\/i>\u2010related syndromes"],"prefix":"10.1002","volume":"18","author":[{"given":"Mario","family":"Mastrangelo","sequence":"first","affiliation":[{"name":"Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry Sapienza\u2010University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Florey Institute and University of Melbourne Austin Health and Royal Children's Hospital  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria C.","family":"Bramswig","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen Universit\u00e4t Duisburg\u2010Essen  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lal. D.V.","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Saveetha Medical College  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Candace T.","family":"Myers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington  Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Lisa","family":"Dentici","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg C.","family":"Korenke","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr Neurop\u00e4diatrie Klinikum Oldenburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Schoch","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Montreal  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Childrens Research Institute Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vandana","family":"Shashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujay","family":"Kansagra","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Duke University Medical Center  Durham USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthonie J.","family":"Van Essen","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry Sapienza\u2010University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1590-1"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pbb.2011.12.008"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70265-5"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.08.004"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12487"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3282"},{"key":"e_1_2_8_8_1","unstructured":"MortensenL.S. 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KV10.1 opposes activity\u2010dependent increase in Ca2+ influx into the presynaptic terminal of the parallel fibre\u2010Purkinje cell synapse.J Physiol2015181\u2013196."},{"key":"e_1_2_8_9_1","first-page":"SD01","article-title":"Absence of nails, deaf\u2010mutism, seizures, and intellectual disability: a case report","volume":"9","author":"Nair L.D.","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.80"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3153"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt076"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.2610"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0830","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:03:33Z","timestamp":1710777813000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0830"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1684\/epd.2016.0830"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0830","archive":["Portico"],"relation":{"cites":[{"id-type":"doi","id":"10.1155\/2017\/7371010","asserted-by":"object"}]},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6]]}}}