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    Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort
    (Wiley, 2023) Unalp, Aycan; Guzin, Yigithan; Unay, Bulent; Tosun, Ayse; Cavusoglu, Dilek; Tekin, Hande Gazeteci; Kurul, Semra Hiz
    Objective: As new-generation sequencing methods develop, rare epilepsy is increasing and burdening national health systems-community building among rare epilepsies fuels collaboration, research, and resource development. Comorbidities should be carefully considered in diagnosing and treating children with rare epilepsy. This multicentric study aimed to evaluate the clinical features and comorbidities of children diagnosed with rare childhood genetic epilepsies. Methods: This multicentric study evaluated demographics, clinical findings, neuromotor developmental progress, and concomitant comorbid diseases of childhood rare genetic epilepsies. We included 156 patients from the nine tertiary health centers in our research. Results: The gene variants were distributed to 36 patients (23.1%) with SCN1A, 14 (9%) with KCNQ2, 10 (6.4%) with PCDH19, 6 (3.8%) with SCN8A, 5 (3.2%) with SLC2A1, 5 (3.2%) with WWOX, respectively. The remaining 80 patients (51.3%) were with other gene variants. Comorbid conditions are present in 82% of patients, most commonly intellectual disability (70%), developmental delay (32.1%), and movement disorders 12.8%. Most of the rare genetic epileptic children (52%) were using more than three anti-seizure drugs. In terms of developmental delay in children with rare epilepsy, the neuromotor developmental delay was found to progress with age, shown at the end of 2nd year of treatment. In addition, comorbidity, number of drugs, multiple types of seizures, seizure frequency, age at diagnosis of epilepsy, and duration of epilepsy all affected neuromotor developmental status (p <.05). Significance: Despite using multiple antiseizure medications, most of our patients had drug-resistant epilepsy and concomitant developmental delay. Since a complete cure cannot be achieved in most of these patients further studies with centers' collaboration might help improve therapeutic decisions and precision treatment methods.
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    Evaluation of MicroRNAs in Pediatric Epilepsy
    (Aves, 2023) Carman, Kursat Bora; Tekin, Hande Gazeteci; Cavusoglu, Dilek; Yarar, Coskun; Kaplan, Emre; Karademir, Cefa Nil; Arslantas, Didem
    Objective: The pathophysiology of epilepsy remains unknown. Recent research has shown that microRNA expression changes in epileptic adults. In the present work, we aimed to identify serum microRNA expression in drug-responsive and resistant children with idiopathic generalized epilepsy.Materials and Methods: The study included 43 (20 male and 23 female) epilepsy patients and 66 (43 male and 23 female) control subjects. The mean ages of the groups were 113.41 & PLUSMN; 61.83 and 105.46 & PLUSMN; 62.31 months, respectively. Twenty-eight epileptic patients were classified as drug resistant. Thirteen of the controls were the siblings of patients with epilepsy. The study only included children with idiopathic generalized epilepsy who had normal brain magnetic resonance imaging. The serum microRNA expressions (microRNA-181a, microRNA-155, microRNA-146, and microRNA-223) were investigated. Expressions of serum microRNA-181a, microRNA-155, microRNA-146, and microRNA-223 were previously investigated in epilepsy patients and children with febrile seizures. Therefore, these microRNAs were chosen. The expressions of serum levels of microRNAs were determined using quantitative real-time polymerase chain reaction.Results: The results indicated that the expressions of serum microRNA-155 and microRNA-223 were elevated in epileptic children (P < .05). The expression of the same microRNAs was also elevated in individuals with drug-resistant epilepsy compared to healthy controls (P < .05). microRNA-146a, microRNA-155, and microRNA-223 expressions were higher in drug-resistant patients than in drug-responsive children (P < .05). A logistic regression study determined that an increase of microRNA-155 was a risk for epilepsy, while a decrease of microRNA-146a risk for epilepsy.Conclusion: Few researchers have investigated the function of microRNAs in the development of childhood epilepsy. Our findings revealed that epilepsy patients have abnormal microRNAexpression.