Browsing by Author "Gokben S."

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    Ratios of nine risk factors in children with recurrent febrile seizures
    (2010) Tosun A.; Koturoglu G.; Serdaroglu G.; Polat M.; Kurugol Z.; Gokben S.; Tekgul H.
    Febrile seizures are the most common convulsive disorder of childhood, with a recurrence probability of 33%. The aim of the study was to determine the risk factors for recurrence of febrile seizures in children. In this descriptive, cross-sectional study, nine risk factors of recurrence of febrile seizures were investigated in 259 children with febrile seizures: (1) sex; (2) domicile; (3) income level; (4) family history of febrile seizures; (5) family history of epilepsy; (6) level of fever; (7) duration of fever; (8) type of seizure, simple vs complex; and (9) age at seizure onset. The risk factors were compared for 119 children with isolated febrile seizures (45.9% of the total) and 140 children with two or more febrile seizure recurrences (54.1%). Among the patients with and without recurrent febrile seizures, 32% and 18% were domiciled in nonurban areas, respectively (P = 0.012). There was a family history of febrile seizures in 57% and 44% of cases with and without recurrent febrile seizures, respectively (P = 0.031). According to the logistic regression analysis, a family history of febrile seizures was a risk factor that affected recurrence (P = 0.018; odds ratio OR = 1.933; 95% confidence interval CI = 1.121-3.333). We also found that domicile (P = 0.001) and income (P = 0.013) were risk factors for recurrence. A family history of epilepsy was not a significant risk factor (P = 0.129; OR = 2.110; 95% CI = 0.804-5.539). © 2010 by Elsevier Inc. All rights reserved.
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    Neurocognitive evaluation in children with occipital lobe epilepsy
    (2012) Polat M.; Gokben S.; Tosun A.; Serdaroglu G.; Tekgul H.
    Purpose: This study aimed to explore cognitive functions in patients with childhood epilepsy with occipital paroxysms (CEOP) and to compare the performance of these patients with that of patients with symptomatic occipital epilepsy (SOE) and healthy control subjects. Method: Twenty-eight patients with epilepsy (17 CEOP, 11 SOE) were enrolled. The control group had similar demographical characteristics. Cognitive functions evaluated with Wechsler Intelligence Scale for Children-revised edition (WISC-R), The Visual Aural Digit Span (VADS) and Bender Visual Motor Gestalt Test (BVMG). Results: The WISC-R showed lower performance IQ with WISC-R in patients with occipital epilepsy than in healthy controls. The VADS test only showed lower scores in children with symptomatic occipital epilepsy. Mean BVMG test scores were significantly abnormal in both subgroups of childhood epilepsy with occipital paroxysms (early-onset CEOP/late-onset CEOP) and the group with SOE. Conclusion: Patients with CEOP, especially the late-onset form, have significant problems in the domains of visuomotor coordination, memory and attention. The academic performance of these patients should be monitored carefully in follow-up and appropriate educational support should be given as necessary. © 2012 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
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    Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study
    (W.B. Saunders Ltd, 2024) Kanmaz S.; Tekgul H.; Kayilioglu H.; Atas Y.; Kart P.O.; Yildiz N.; Gumus H.; Aydin K.; Olculu C.B.; Dogan D.E.T.; Per H.; Canpolat M.; Gulec A.; Yildirim N.; Turk E.; Celik N.; Ozturk S.; Kumandas S.; Kilic B.; Topcu Y.; Ozpinar E.; Coskun A.; Arslan M.; Akkoyunlu D.S.; Cine N.; Uzan G.S.; Gunay C.; Akyol D.; Ersoy O.; Direk M.C.; Komur M.; Kirkgoz H.; Karaoğlu P.; Ibis I.B.P.; Cerci C.; Orak A.; Oktay S.; Ayanoglu M.; Yildirim M.; Bektas O.; Serdaroglu E.; Yilmaz S.B.; Cankurt I.; Hirfanoglu T.; Arhan E.; Gencpinar P.; Dundar N.O.; Teber S.; Serin H.M.; Yilmaz S.; Tosun A.; Polat M.; Yilmaz U.; Unalp A.; Kara B.; Okuyaz C.; Yis U.; Hiz S.; Aktan G.; Gokben S.; Unay B.; Serdaroglu A.; Cansu A.
    Objective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management. Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005–2013) and the current NGS era (2014–2022). A predefined four-stepwise diagnostic model was evaluated using cost-effectiveness analysis. The diagnostic and potential therapeutic yields of the genetic tests were subsequently determined. Results: Gene-related EO-DEEs were identified in 48.3 % (n = 701) of the cohort: non-structural genetic (62.6 %), metabolic genetic (15.1 %), and structural genetic (14.1 %). The most common nonstructural genetic variants were SCN1A (n = 132, 18.8 %), CDKL5 (n = 30, 4.2 %), STXBP1 (n = 21, 2.9 %), KCNQ2 (n = 21, 2.9 %), and PCDH19 (n = 17, 2.4 %). The rate of ultra-rare variants (< 0.5 %) was higher in the NGS era (52 %) than that in the initial phase (36 %). The potential therapeutic yields with precision therapy and antiseizure drug modification were defined in 34.5 % and 56.2 % in genetic-EO-DEEs, respectively. The diagnostic model provided an etiology-specific diagnosis at a rate of 78.7 %: structural (nongenetic) (31.4 %), genetic (38.5 %), metabolic (6.1 %), and immune-infectious (2.8 %). Based on a cost-effectiveness analysis, the presented diagnostic model indicated the early implementation of whole-exome sequencing for EO-DEEs. Significance: In the present cohort, the higher rate (48.3 %) of gene-related EO-DEE diagnoses in the NGS era provides a potential therapeutic management plan for more patients. © 2024 British Epilepsy Association