Abstract:
: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): 835-838. :Absztrakt: A molekuláris genetikai technológiák fejlődése következtében egyre több, korábban idiopátiásnak tartott betegség hátterében ismerjük meg a genetikai eltérést. A generalizált epilepsziában szenvedő, a betegség lefolyása során epilepsziaszindrómát váltó, jó intellektusú, kiterjedt hipopigmentált folttal rendelkező fiúgyermek célzott genetikai vizsgálata neurocutan szindróma irányába nem hozott eredményt. Teljesexom-szekvenálás során egy kálium-klorid-kotranszporter génjének heterozigóta misszensz mutációja igazolódott, ami a fenotípussal összevetve, az irodalomban az idiopátiás generalizált epilepszia 14-es típusaként ismert epilepsziaszindróma diagnózisát támasztja alá. Orv Hetil. 2019; 160(21): 835–838.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Till Á,Szalai R,Hegyi M,Kövesdi E,Büki G,Hadzsiev K,Melegh Bdoi
10.1556/650.2019.31404subject
Has Abstractpub_date
2019-05-01 00:00:00pages
835-838issue
21eissn
0030-6002issn
1788-6120journal_volume
160pub_type
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