We report a novel gene associated with early-onset epileptic encephalopathy, identified across a cohort of children at the center.
Functional follow-up in our models supports a loss-of-function mechanism, opening a path toward targeted intervention.
We report a novel gene associated with early-onset epileptic encephalopathy, identified across a cohort of children at the center.
Functional follow-up in our models supports a loss-of-function mechanism, opening a path toward targeted intervention.