Evaluation of seizures and clinical features of pediatric patients diagnosed with Rett Syndrome who were detected to have MECP2 mutation
Küçük Resim Yok
Tarih
2021
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Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Aim: 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.
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Kaynak
Turkish Journal of Clinics and Laboratory
WoS Q Değeri
Scopus Q Değeri
Cilt
12
Sayı
1
