D
D. Hristova
Researcher at Tokuda Hospital
Publications - 13
Citations - 610
D. Hristova is an academic researcher from Tokuda Hospital. The author has contributed to research in topics: Genetic marker & Epilepsy. The author has an hindex of 4, co-authored 12 publications receiving 531 citations. Previous affiliations of D. Hristova include Sofia Medical University.
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Journal ArticleDOI
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Sarah Weckhuysen,Simone Mandelstam,Arvid Suls,Dominique Audenaert,Dominique Audenaert,Tine Deconinck,L Claes,Liesbet Deprez,Katrien Smets,D. Hristova,Iglika Yordanova,Albena Jordanova,Berten Ceulemans,An Jansen,D. Hasaerts,Filip Roelens,Lieven Lagae,Simone C. Yendle,Thorsten Stanley,Sarah E. Heron,John C. Mulley,Samuel F. Berkovic,Ingrid E. Scheffer,Ingrid E. Scheffer,Peter De Jonghe +24 more
TL;DR: This study investigated whether KCNQ2/3 mutations are a frequent cause of epileptic encephalopathies with an early onset and whether a recognizable phenotype exists.
Journal ArticleDOI
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
Y Liao,Liesbet Deprez,Snezana Maljevic,Julika Pitsch,L Claes,D. Hristova,Albena Jordanova,Albena Jordanova,Sirpa Ala-Mello,A Bellan-Koch,Dragica Blazevic,Simone Schubert,Evan A. Thomas,Steven Petrou,Albert J. Becker,Peter De Jonghe,Holger Lerche +16 more
TL;DR: A mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life is proposed, which provides a plausible explanation for the transient expression of seizures that occur due to a gain-of-function of mutant Na(V)1.2 channels.
Journal Article
Genetic diversity in Bulgarian Thoroughbred using microsatellite DNA markers.
Journal ArticleDOI
One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.
Iglika Yordanova,Tihomir Todorov,Petia Dimova,D. Hristova,Radka Tincheva,Ivan Litvinenko,Olga Yotovska,Ivo Kremensky,Albena Todorova +8 more
TL;DR: Two patients with SCN1A mutations and severe epilepsy within the spectrum of generalized epilepsy with febrile seizures plus syndrome (GEFS+) are reported on, the phenotypes being consistent with DS and MAE, respectively.
Journal ArticleDOI
Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome.
N Ivanova,Valentina Peycheva,Kunka Kamenarova,Dalia Kancheva,Irina Tsekova,Iliana Aleksandrova,D. Hristova,Ivan Litvinenko,Diana Todorova,Gergana Sarailieva,Petya Dimova,Veselin Tomov,Veneta Bozhinova,Vanio Mitev,Radka Kaneva,Albena Jordanova,Albena Jordanova +16 more
TL;DR: This study enriches the mutation spectrum of the SLC2A1 gene by 3 novel cases that reflect the genetic and phenotypic diversity of GLUT1-DS and brings new insights into the molecular pathology of that disorder.