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Öğe Fine motor skills in children with rolandic epilepsy(Academic Press Inc Elsevier Science, 2013) Ayaz, Muhammed; Kara, Bulent; Soylu, Nusret; Ayaz, Ayse BurcuThis study aimed to evaluate fine motor skills in children with rolandic epilepsy (RE). The research included 44 children diagnosed with typical RE and 44 controls matched in terms of age, gender, and level of education. Fine motor skills were evaluated with the Purdue Pegboard Test, and intelligence was measured with the Wechsler Intelligence Scale for Children. After controlling for the effect of intelligence on fine motor skills, the results showed that the children with RE did not perform as well as the controls in the PPT dominant hand, both hands, and assembly subtests. Epileptic focus, treatment status, type of antiepileptic treatment, age at the time of the first seizure, time since the last seizure, and total number of seizures did not affect motor skills. Rolandic epilepsy negatively affected fine motor skills regardless of the children's level of intelligence. (C) 2013 Elsevier Inc. All rights reserved.Öğe Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study(Georg Thieme Verlag Kg, 2023) Gunay, Cagatay; Aykol, Duygu; Ozsoy, Ozlem; Sonmezler, Ece; Hanci, Yaren Sena; Kara, Bulent; Sunnetci, Deniz AkkoyunluBackground Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Method In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage- gated ion channel activity/voltage-gated channel activity, respectively. Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.