Anat Mavashov

The paper shows that ASOs targeting CHASERR induce fusion transcripts that increase CHD2 expression, alleviating haploinsufficiency in mice.

This paper characterizes behavioral and epileptic phenotypes in a CHD2 mutant mouse model, identifying genetic modifiers and altered ECoG activity associated with developmental delay.

This paper introduces a novel Dravet syndrome mouse model with a Scn1a R613X nonsense mutation, showing seizures, premature death, and hyperactivity.

This study shows that delivering a modified SCN1A gene via viral vectors to DS mice improves survival, reduces seizures, and corrects brain activity after symptom onset.