Hyun Yong Koh

The paper shows that CAMSAP3 loss of function leads to microtubule acetylation dysregulation and epileptic features in zebrafish and cultured cells.

This study generates mosaic depdc5 loss-of-function zebrafish models to study DEPDC5-related epilepsy and early death, finding increased seizure-like behavior and neuronal hyperexcitability.

This study uses scRNA-seq data to identify developmental-like cell states in brain tumors, suggesting potential cells of origin for medulloblastoma, glioma, and diffuse midline glioma.

The paper generates zebrafish models of candidate human epilepsy genes and identifies five genes associated with seizure-like behavior and hyperexcitability.

This study identifies de novo HDAC3 variants in patients with neurodevelopmental disorders and shows they cause reduced HDAC activity, disrupted protein interactions, and impaired nuclear localization.

This study shows that a low number of mTOR mutant neurons can cause seizures in mice, and similar low levels of mosaicism are found in human patients.