Article
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Clinical genetics - 1 Mar 2021
Kim Soo Yeon, Jang Se Song, Kim Hunmin, Hwang Hee, Choi Ji Eun, Chae Jong-Hee, Kim Ki Joong, Lim Byung Chan
Abstract excerpt
This study aimed to evaluate the clinical utility of whole-exome sequencing in a group of infantile-onset epilepsy patients who tested negative for epilepsy using a gene panel test. Whole-exome sequencing was performed on 59 patients who tested negative on customized epilepsy gene panel testing. We identified eight pathogenic or likely pathogenic sequence variants in eight different genes (FARS2, YWHAG, KCNC1,...
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