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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: hristova d. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H. Liao Y, et al. Among authors: hristova d. Brain. 2010 May;133(Pt 5):1403-14. doi: 10.1093/brain/awq057. Epub 2010 Apr 5. Brain. 2010. PMID: 20371507
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V, Ivanova N, Kamenarova K, Panova M, Pacheva I, Ivanov I, Bojidarova M, Tacheva G, Stamatov D, Litvinenko I, Hristova D, Deneva D, Rodopska E, Slavkova E, Aleksandrova I, Simeonov E, Dimova P, Bojinova V, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: hristova d. Turk J Pediatr. 2020;62(5):711-725. doi: 10.24953/turkjped.2020.05.002. Turk J Pediatr. 2020. PMID: 33108073 Free article.
Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, Jordanova A. Ivanova N, et al. Among authors: hristova d. Seizure. 2018 Jan;54:41-44. doi: 10.1016/j.seizure.2017.11.014. Epub 2017 Nov 28. Seizure. 2018. PMID: 29223885 Free article.
39 results