Simone Alyson Mandelstam

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

The paper identifies incomplete interhemispheric fissure remodelling as a key factor in corpus callosum dysgenesis, linking genetic and cellular factors to variable phenotypes in mice and humans.

This study shows that resecting only the center of cortical tubers in TSC patients eliminates seizures without functional deficits, as the center has higher dysmorphic neuron density.

The paper shows that PCDH19 mutations in females cause abnormal cell sorting in the developing cortex, leading to epilepsy, while males are unaffected due to normal sorting.