{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T03:53:06Z","timestamp":1648612386922},"reference-count":35,"publisher":"Akademiai Kiado Zrt.","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:p> Tuberous sclerosis is an autosomal dominant disorder, caused by mutations of the TSC1 or TSC2 genes resulting in tumor predisposition. Clinical signs include non-malignant brain tumors, skin, eye, heart and kidney abnormalities. The authors report a Hungarian family with broad phenotypic variability. First, the 5-year-old boy, showing the most symptoms was examined, whose first seizure occurred at 15 months and a cranial magnetic resonance imaging revealed numerous intracerebral calcareous foci. Except of hypopigmented skin spots, no other abnormality was found on physical examination. The mother was completely asymptomatic. Epilepsy of the maternal uncle started at the age of 3 years, of his sister at the age of 17 years and of the maternal grandmother at the age of 39 years. At the age of 52 years the grandmother developed renal cysts. Molecular genetic analysis of the family confirmed a de novo heterozygous point mutation (c.2523 C\\&gt;T) in exon 20 of the TSC1 gene. The mutation was detected in all examined family members. Despite increasing data on the pathomechanism of tuberous sclerosis, there is still little known about the genetic modifying factors influencing the broad intra- and interfamilial phenotypic variability. Orv. Hetil., 2013, 154, 914\u2013918. <\/jats:p>","DOI":"10.1556\/oh.2013.29634","type":"journal-article","created":{"date-parts":[[2013,6,3]],"date-time":"2013-06-03T01:00:52Z","timestamp":1370221252000},"page":"914-918","source":"Crossref","is-referenced-by-count":1,"title":["Novel <i>TSC1<\/i> mutation associated with variable phenotypes in tuberous sclerosis"],"prefix":"10.1556","volume":"154","author":[{"given":"Erzs\u00e9bet","family":"K\u00f6vesdi","sequence":"first","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7623"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1yi Kar Szent\u00e1gothai Kutat\u00f3k\u00f6zpont P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7623"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1yi Kar Szent\u00e1gothai Kutat\u00f3k\u00f6zpont P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Koml\u00f3si","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7623"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1yi Kar Szent\u00e1gothai Kutat\u00f3k\u00f6zpont P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1ria","family":"Kassay","sequence":"additional","affiliation":[{"name":"Budai Gyermekk\u00f3rh\u00e1z Epilepszia-Neurol\u00f3gia Szakambulancia Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Barsi","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1yi Kar Szent\u00e1gothai Tud\u00e1sk\u00f6zpont, MR Kutat\u00f3k\u00f6zpont Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Melegh","sequence":"additional","affiliation":[{"name":"P\u00e9csi Tudom\u00e1nyegyetem Klinikai K\u00f6zpont, Orvosi Genetikai Int\u00e9zet P\u00e9cs Szigeti \u00fat 12. 7623"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1yi Kar Szent\u00e1gothai Kutat\u00f3k\u00f6zpont P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1056\/NEJMra055323","volume":"355","year":"2006","journal-title":"N. 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