Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene

Çapan et al. (2024) used Genomize-SEQ to analyze whole-exome sequencing data in a child with severe drug-resistant epilepsy and developmental delay, identifying two novel compound heterozygous GOT2 mutations that explain the metabolic basis of the condition and enable targeted treatment decisions.