Sheryl Anne D. Vermudez

This study shows that restoring the ALDH5A1 gene in a mouse model of SSADHD reverses hyperactivity and reduces GHB levels, improving survival.

The paper investigates mGlu7 expression in Rett syndrome and shows that mGlu7 PAMs can reduce apneas in RTT patients.

The paper investigates the reciprocal regulation of the H3 histamine receptor in Rett syndrome and MECP2 Duplication syndrome, showing reduced H3 receptor expression in RTT and increased in MDS, and evaluates potential therapeutic effects of agonist and inverse agonist drugs.

This study identifies sex differences in mortality and seizure morbidity in Scn1a+/− mice, showing increased female mortality and male seizure severity, with hyperactivity possibly contributing to female mortality.