Moran Rubinstein

This study identifies conserved transcriptomic signatures in GNB1 encephalopathy across human and mouse models, linking GNB1 mutations to developmental, epileptic, and neuronal dysfunction.

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 examines the acute effects of antiseizure drugs on background neuronal oscillations in a Dravet syndrome mouse model, finding that some drugs reduce interictal spikes and alter frequency bands while others do not.

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.

This study examines EEG and behavioral changes in Dravet syndrome mice across disease stages, finding reduced EEG power and early behavioral deficits.

The paper analyzes the activity of hippocampal neurons in a mouse model of Dravet syndrome across different disease stages, finding temporary excitability increases in pyramidal neurons and persistent inhibition deficits in interneurons.