Kazumi Shimaoka

The paper identifies molecular features of WM heterotopic neurons in MOGHE using spatial transcriptomics and supports findings with immunohistochemistry and a mouse model.

The paper integrates transcriptomic and proteomic data from mTOR-related epilepsy patients to identify impaired oxidative phosphorylation as a molecular hallmark.

The paper uses spatial multi-omics to analyze FCDIIb tissue, revealing cell-type-specific effects of mTOR mutations on metabolic and immune pathways in drug-resistant epilepsy.

This study identifies AUTS2's role in regulating intermediate progenitor cell division and upper-layer neuron production through interaction with PRC2 and repression of genes like Robo1.

This study investigates the role of AUTS2 in cerebellar development, Purkinje cell maturation, and behavioral functions, finding that its loss leads to cerebellar defects and behavioral impairments linked to ASDs.

This study shows that AUTS2 regulates excitatory synapse number to maintain E/I balance, and its loss leads to autistic-like behaviors and increased brain excitability.