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.authoridSerdaroglu, Esra/0000-0001-9925-0859
dc.contributor.authorYildiz, Nihal
dc.contributor.authorSerdaroglu, Esra
dc.contributor.authorKart, Pinar Ozkan
dc.contributor.authorBesen, Seyda
dc.contributor.authorKanmaz, Seda
dc.contributor.authorToprak, Dilara Ece
dc.contributor.authorKilic, Betul
dc.date.accessioned2024-08-31T07:47:39Z
dc.date.available2024-08-31T07:47:39Z
dc.date.issued2024
dc.departmentEge Üniversitesien_US
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.en_US
dc.identifier.doi10.1016/j.eplepsyres.2024.107399
dc.identifier.issn0920-1211
dc.identifier.issn1872-6844
dc.identifier.pmid39003968en_US
dc.identifier.scopus2-s2.0-85198350475en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1016/j.eplepsyres.2024.107399
dc.identifier.urihttps://hdl.handle.net/11454/104504
dc.identifier.volume205en_US
dc.identifier.wosWOS:001278353000001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofEpilepsy Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240831_Uen_US
dc.subjectChilden_US
dc.subjectGenetic Variantsen_US
dc.subjectRett Syndromeen_US
dc.subjectEpilepsyen_US
dc.titleEvaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective studyen_US
dc.typeArticleen_US

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