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

Nihal YıldızEsra SerdaroğluPınar Özkan KartSeyda BesenSeda KanmazDilara Ece ToprakBetul KilicOzlem ErsoyPınar GencpinarNihal Olgac DundarCetin OkuyazAyse SerdarogluKursat Bora CarmanCoşkun YararBarış EkiciBurak Tatlıİlknur ErolKürşad AydınHasan TekgülAli Cansu
Published in: Epilepsy research (2024)
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.
Keyphrases
  • magnetic resonance imaging
  • young adults
  • clinical trial
  • genome wide
  • dna methylation
  • copy number