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Broadening the scope of multigene panel analysis for adult epilepsy patients.

Seungbok LeeMi-Kyoung KangKi Hurn SoRiyul JangYong Woo ShinSe Song JangJihoon G YoonSheehyun KimManjin KimKon ChuSang Kun LeeKi Joong KimSeung Tae BaekByung Chan LimJangsup Moon
Published in: Epilepsia open (2024)
This study demonstrated the effectiveness of gene panel sequencing in adults with epilepsy, revealing pathogenic or likely pathogenic variants in 13.0% of patients. Higher diagnostic yields were observed in those with neurodevelopmental disorders or childhood-onset seizures. Additionally, we have shown that expanding genetic studies into adult patients would uncover new types of pathogenic variants for epilepsy, contributing to the advancement of precision medicine for individuals with epilepsy. In conclusion, our results highlight the practical value of employing gene panel sequencing in adult epilepsy patients, particularly when genetic etiology is clinically suspected.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • genome wide
  • patient reported outcomes
  • single cell
  • dna methylation
  • patient reported
  • childhood cancer