Browsing by Author "Gormez, Z"
A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family Yuceturk , B; Calik , M; Altıokka uzun , G; Sagiroglu, MS; Yuksel, B; Iscan, AKIN; Ozbek , U; Ugur Iseri, SA; Bebek, N; Baykan, B; Tuncer, FN; Gormez, Z (2015-07-01)A consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined ...
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. Gurvit, H; Bilgic, B; Ugur, Iseri; Yucesan, Emrah; Ozbek, U; Hanagasi, H; Sagiroglu, M; Ozdemir, O; Sarac, A; Bakir, Gungor; Gormez, Z (2017-12-01)