Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with rett syndrome: a multicenter retrospective study

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dc.authorid0000-0003-0884-2635
dc.contributor.authorYıldız, Nihal
dc.contributor.authorSerdaroğlu, Esra
dc.contributor.authorKart, Pınar
dc.contributor.authorBeşen, Şeyda
dc.contributor.authorKanmaz, Seda
dc.contributor.authorToprak, Dilara Ece
dc.contributor.authorKılıç, Betül
dc.contributor.authorErsoy, Özlem
dc.contributor.authorGençpınar, Pınar
dc.contributor.authorOlgaç Dündar, Nihal
dc.contributor.authorOkuyaz, Çetin
dc.contributor.authorSerdaroğlu, Ayşe
dc.date.accessioned2024-08-02T11:26:59Z
dc.date.available2024-08-02T11:26:59Z
dc.date.issued2024
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractObjectives: 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.
dc.identifier.citationYıldız, N., Serdaroğlu, E., Kart, P., Beşen, Ş., Kanmaz, S., Toprak, D. E. ... Serdaroğlu, A. (2024). Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with rett syndrome: a multicenter retrospective study. Epilepsy Research, 205. http://dx.doi.org/10.1016/j.eplepsyres.2024.107399
dc.identifier.doi10.1016/j.eplepsyres.2024.107399
dc.identifier.issn0920-1211
dc.identifier.issn1872-6844
dc.identifier.pmid39003968
dc.identifier.scopus2-s2.0-85198350475
dc.identifier.scopusqualityQ2
dc.identifier.urihttp://dx.doi.org/10.1016/j.eplepsyres.2024.107399
dc.identifier.urihttps://hdl.handle.net/20.500.12511/12757
dc.identifier.volume205
dc.identifier.wos001278353000001en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorKılıç, Betül
dc.language.isoen
dc.relation.ispartofEpilepsy Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectChild
dc.subjectEpilepsy
dc.subjectGenetic Variants
dc.subjectRett Syndrome
dc.titleEvaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with rett syndrome: a multicenter retrospective study
dc.typeArticle

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