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Öğe A multicenter study of self-limited epilepsy with centrotemporal spikes: Effectiveness of antiseizure medication with respect to spike-wave index(Elsevier Inc., 2024) Dilber, Beril; Serdaroğlu, Esra; Kanmaz, Seda; Kılıç, Betül; İpek, Rojan; Kargın Menderes, Deniz; Yıldız, Nihal; Topçu, Yasemin; Arhan, Ebru Petek; Serdaroğlu, Ayşe; Okuyaz, Çetin; Aydın, Kürşad; Tekgül, Hasan; Cansu, AliBackground: There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings. Methods: In this multicenter study, the study cohort consisted of 604 children with self-limited epilepsy with centrotemporal spikes. A data set of epilepsy centers follow-up between 2010 and 2022. The cohort was divided into 4 groups as those receiving 3 different monotherapy (carbamazepine [CBZ]/valproic acid [VPA]/levetiracetam [LEV]) and dual therapy. SWI analysis was performed with the percent of spikes in the 2-minute epoch in the 5th 6th minutes of the nonrapid eye movement sleep EEG record. The study group were also categorized according to seizure burden with seizure frequency (I) >2 seizures and (II) >5 seizures. Seizure outcome was evaluated based on the reduction in seizure frequency over 6-month periods: (1) 50% reduction and (2) seizure-free (complete response). Results: ASM monotherapy was achieved in 74.5% children with VPA, CBZ, and LEV with similar rates of 85.8%, 85.7%, and 77.9%. Dual therapy was need in the 25.5% of children with SeLECT. More dual therapy was administered in children aged below 5 years with a rate of 46.2%. Earlier seizure-free achievement time was seen in children with LEV monotherapy with more complete-response rate (86.7%) compared the VPA and CBZ. Conclusions: We also determined that the children on dual therapy had more SWI clearance in the subsequent EEG recordings. The ROC curve analyses were performed to predict initial drug selection with using the SWI% might be used for the prediction of ASM type and drug selection in children.Öğe Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with rett syndrome: a multicenter retrospective study(2024) Yıldız, Nihal; Serdaroğlu, Esra; Kart, Pınar; Beşen, Şeyda; Kanmaz, Seda; Toprak, Dilara Ece; Kılıç, Betül; Ersoy, Özlem; Gençpınar, Pınar; Olgaç Dündar, Nihal; Okuyaz, Çetin; Serdaroğlu, AyşeObjectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT). Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers. Results: In this study, 93.3 % of patients were female, with typical RTT found in 70 % of cases. Genetic etiology revealed MECP2, FoxG1, and CDKL5 in 93.8 %, 2.7 %, and 1.8 % of cases, respectively. Atypical RTT clinics were observed in 50 % of male cases, with the first EEG being normal in atypical RTT cases (p = 0.01). Generalized tonic-clonic and myoclonic epilepsy were the most common seizure semiologies, while absence and focal epilepsy were less prevalent. Valproate, levetiracetam, lamotrigine, and clobazam were the most commonly used antiepileptic drugs, affecting the severity and frequency of seizures (p = 0.015, p=<0.001, p = 0.022, and p=<0.001, respectively). No significant differences were observed in EEG findings. The initiation of anti-seizure medications significantly altered seizure characteristics (Table 4). A ketogenic diet and vagal nerve stimulation (VNS) correlated with a 50 % improvement in cognitive function, while steroid treatment showed a 60 % improvement. Remarkably, seizures were substantially reduced after VNS application. Conclusion: This study underscores the importance of genetic diagnosis in RTT cases with a clinical diagnosis. These preliminary results will be further validated with the inclusion of clinically diagnosed RTT cases in our ongoing study.Öğe Normal neonatal electroencephalography and maturation of electroencephalography during neonatal period(Türkiye Klinikleri, 2019) Aksu Uzunhan, Tuğçe; Ay, Halil; Aydın, Kürşad; Çalık, Mustafa; Çarman, Kürşat Bora; Deda, Giuseppe; Çobanoğulları Direk, Meltem; Dolu, Merve Hilal; Duman, Okan; Erçelebi, Hakan; Ethemoğlu, Özlem; Gençpınar, Pınar; Gökben, Sarenur; Günbey, Ceren; Hasanoglu, Canan; Haspolat, Şenay; Kanmaz, Seda; Karalok, Zeynep Selen; Kaya Özçora, Gül Demet; Kırık, S.; Kömür, Mustafa; Okuyaz, Çetin; Olgaç Dündar, Nihal; Özbudak, Pınar; Öztopark, U.; Serdaroğlu, Ayşe; Sönmez, Fatma Müjgan; Şimşek, E.; Taşdemir, Haydar Ali; Tekgül, Hasan; Turanlı, Güzide; Türkdoğan, Dilşad; Ünay, Bülent; Ünver, O.; Yalnızoğlu, Dilek; Yarar, CoşkunDespite evolving technologies, electroencephalography (EEG) remains a powerful tool for neurological diagnosis and prognosis in both preterm and term neonates. Neonatal EEG is different from children and adult's EEG technically and also because it changes week by week as a result of brain maturation and growth. An EEG finding normal in a developmental stage may be abnormal in a different developmental stage owing to these rapid changes of brain growth. So it is important to know normal patterns of neonatal EEG in different conceptional weeks and behavioral states (sleep, awakeness). In this section, technical and qualitative features of normal neonatal EEG will be mentioned, normal graphoelements and maturational changes on the EEG background of neonates going through preterm to term age will be described.Öğe Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (eo-dees): a nationwide Turkish cohort study(2024) Kanmaz, Seda; Tekgül, Hasan; Aydın, Kürşad; Kılıç, Betül; Topçu, Yasemin; Özpınar, Esra; Cansu, AliObjective: 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.
