Ehud Banne

Deciphering the mechanistic basis for the pathological effect of the Gαo E246K mutation in neurodevelopmental disorder

The paper investigates the molecular mechanism of the Gαo E246K mutation in neurodevelopmental disorders, showing it disrupts the GTPase cycle by impairing Gβγ dissociation, leading to dominant-negative effects.

Modeling Genetic Epileptic Encephalopathies using Brain Organoids

This study uses brain organoids to model WOREE, a severe epileptic encephalopathy, identifying CNS abnormalities and showing potential therapeutic rescue via WWOX expression.

Structural analysis of de novo STXBP1 mutation in complex with syntaxin 1A reveals a major alteration in the interaction interface in a child with developmental delay and spasticity

The paper identifies a de novo STXBP1 mutation in a child with developmental delay and spasticity, showing how it disrupts the STXBP1-syntaxin 1A interaction through structural analysis.