The Turkish Journal of Pediatrics 2020 , Vol 62 , Num 5
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype
Valentina Peycheva 1 ,Nevyana Ivanova 1 ,Kunka Kamenarova 1 ,Margarita Panova 2 ,Iliana Pacheva 2 ,Ivan Ivanov 2 ,Maria Bojidarova 3 ,Genoveva Tacheva 3 ,Dimitar Stamatov 3 ,Ivan Litvinenko 3 ,Dimitrina Hristova 4 ,Daniela Deneva 5 ,Elena Rodopska 5 ,Elena Slavkova 5 ,Iliyana Aleksandrova 5 ,Emil Simeonov 6 ,Petia Dimova 7 ,Veneta Bojinova 5 ,Vanyo Mitev 1 ,Albena Jordanova 1-8 ,Radka Kaneva 1
1 Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia, Bulgaria
2 Department of Pediatrics and Medical Genetics, Medical Faculty, Medical University-Plovdiv, Plovdiv, Bulgaria
3 Department of Pediatric Neurology, University Pediatrics Hospital, Medical University- Sofia, Sofia, Bulgaria; Children Neurology Unit
4 Pediatrics Clinic, Acibadem City Clinic Tokuda Hospital, Sofia, Bulgaria
5 Department of Neurology, University Hospital of Neurology and Psychiatry “St’ Naum”, Clinic of Child Neurology, Medical University-Sofia, Sofia, Bulgaria
6 University Hospital
7 Epilepsy Surgery Center, University Hospital “St. Ivan Rilski”, Medical University-Sofia, Sofia, Bulgaria
8 VIB Department of Molecular Genetics, Molecular Neurogenomics Group, University of Antwerp, Antwerp, Belgium
DOI : 10.24953/turkjped.2020.05.002 Keywords :
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