Browsing by Author "Baykan, B"
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 ...
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Covanis, A; Weckhuysen, S; Kaneva, R; Caglayan, H; Turkdogan, D; Baykan, B; Bebek, N; Ozbek, U; Hempelmann, A; Schulz, H; Rüschendorf, F; Trucks, H; Nürnberg, P; Avanzini, G; Koeleman, BP; Sander, T; Schmitz, B; Janz, D; Weber, YG; Becker, F; Lerche, H; Kleefuss-Lie, AA; Hallman, K; Kunz, WS; Elger, CE; Muhle, H; Stephani, U; Møller, RS; Hjalgrim, H; Mullen, S; Scheffer, IE; Berkovic, SF; Everett, KV; Gardiner, MR; Marini, C; Guerrini, R; Lehesjoki, AE; Siren, A; Nabbout, R; Baulac, S; Leguern, E; EPICURE, Consortium.; Leu, C; de, Kovel; Zara, F; Striano, P; Pezzella, M; Robbiano, A; Bianchi, A; Bisulli, F; Coppola, A; Giallonardo, AT; Beccaria, F; Trenité, DK; Lindhout, D; Gaus, V; Serratosa, JM; Rosenow, F; Feucht, M; Unterberger, I; Suls, A (2012-02-01)
Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation. Uzun, GA; Ozdemir, O; Tuncer, FN; Yucesan, Emrah; Kesim, YF; Baykan, B; Iseri, SA; Ozbek, U; Bebek, N (2016-02-01)