Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
Heba Morsy, Hyeonho Kim, Gyubin Jang…·Reza Maroofian
This study identifies homozygous loss-of-function MDGA2 variants in individuals with developmental and epileptic encephalopathy, establishing MDGA2 as a novel gene for this condition.
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