The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era

• Published in: Pediatric neurology Vol. 157; pp. 100 - 107
• Main Authors: Kanmaz, Seda, Yılmaz, Sanem, Olculu, Cemile Büşra, Toprak, Dilara Ece, Ince, Tuğçe, Yılmaz, Özlem, Atas, Yavuz, Sen, Gursel, Şimşek, Erdem, Serin, Hepsen Mine, Durmuşalioğlu, Enise Avcı, Işık, Esra, Atik, Tahir, Aktan, Gul, Cogulu, Ozgur, Gokben, Sarenur, Ozkınay, Ferda, Tekgul, Hasan
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2024
• Subjects: Genomic era; Infantile epileptic spasms syndrome; Next-generation sequencing; West syndrome; Whole exome sequencing; West syndrome; Next-generation sequencing; Genomic era; Infantile epileptic spasms syndrome; Whole exome sequencing

To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era. The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology...