Head of Children Health Unit of Dr. Sardjito General Hospital, dr. E. Siti Herini, Sp.AK., passed the open examination of doctoral promotion in Faculty of Medicine, Universitas Gadjah Mada (UGM), Wednesday (17/3). The lady born in Yogyakarta forty two years ago successfully defended her dissertation entitled Clinical Description and SCN1A Gene Mutation Associated with Generalized Epilepsy Spectrum with Febrile Seizure Plus (GEFS+)-Severe Myoclonic Epilepsy in Infancy (SMEI) in Children.
In front of board of examiners led by Prof. dr. Ali Ghufron Mukti, M.Sc., Ph.D., Siti said that there was a correlation between SCNA1 gene mutation type with GEFS+ phenotype. However, the location is not associated with the phenotype in children with GEFS +-SMEI spectrum. In her final study, four novel mutations that had never been reported before on SCNA1A protein were found.