Evaluation of seizures and clinical features of pediatric patients diagnosed with Rett Syndrome who were detected to have MECP2 mutation

Basit Öğe Kaydı
dc.contributor.authorKırık, Serkan
dc.contributor.authorAslan, Mahmut
dc.contributor.authorÖzgör, Bilge
dc.contributor.authorGüngör, Serdal
dc.date.accessioned2024-08-04T19:54:38Z
dc.date.available2024-08-04T19:54:38Z
dc.date.issued2021
dc.departmentİnönü Üniversitesien_US
dc.description.abstractAim: The aim of this study was to investigate the seizures and clinical characteristics of patients diagnosed with Rett syndrome with MECP2 mutation who were followed up in our tertiary pediatric neurology clinic. Material and Methods: Patients who were admitted to the pediatric neurology clinic of Inonu University Faculty of Medicine between 2010 and 2015. The patients got MECP2 mutation and whose electronic medical datas were available, were included in our study. Electroencephalography (EEG) records of the patients and antiepileptic treatments they received were evaluated. Results: The mean age of the patients was 10.2 (9.36 ± 2.75) and the mean age at onset of complaints was 15 months (12.1 ± 5.19). Six of 9 patients who had seizures had generalized tonic clonic seizures and three patients had focal seizures. The most preferred antiepileptic drug was valproic acid. Conclusion: Rett syndrome characterized with cognitive detoration, epileptic seizures, and microcephaly. Increased awareness provides early diagnosis and suitable treatment for female patients applied with otism and microcephalia in particular, and it is also important for preventing unnecessary diagnostic tests.en_US
dc.identifier.doi10.18663/tjcl.578475
dc.identifier.endpage69en_US
dc.identifier.issn2149-8296
dc.identifier.issue1en_US
dc.identifier.startpage65en_US
dc.identifier.trdizinid1126502en_US
dc.identifier.urihttps://doi.org/10.18663/tjcl.578475
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1126502
dc.identifier.urihttps://hdl.handle.net/11616/89975
dc.identifier.volume12en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofTurkish Journal of Clinics and Laboratoryen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleEvaluation of seizures and clinical features of pediatric patients diagnosed with Rett Syndrome who were detected to have MECP2 mutationen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

TR-Dizin İndeksli Yayınlar Koleksiyonu