Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.

Yang YouWenjuan WuYakun DuJintong HuBaoguang Li

Published in: Molecular genetics & genomic medicine (2024)

Clinical phenotype and minigene results suggest that WWOX gene homozygous variation c.172+1G>C can cause severe DEE. We also concluded that vigabatrin can effectively treat seizures.

Keyphrases

early onset
genome wide
copy number
genome wide identification
drug induced