Angelman syndrome

A severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. The Philpot group takes a multidisciplinary approach to understand molecular and physiological mechanisms underlying AS and to identify potential therapeutic targets.

Pitt-Hopkins syndrome

A rare neurodevelopmental disorder caused by mutation or deletion of the transcription factor 4 gene. TCF4 encodes a basic helix-loop-helix transcription factor that regulates gene transcription through homodimerization or heterodimerization with other bHLH transcription factors. The Philpot lab has been advancing genetic therapy approaches and identifying small molecule activators that upregulate Tcf4 expression as potential PTHS therapeutics.

Dup15q syndrome

A clinically identifiable syndrome which results from duplications of chromosome 15q11.2-13.1. In most cases of chromosome 15q11.2-13.1 duplication syndrome, the chromosome duplication occurred as a random event during the formation of reproductive cells or during early embroyonic development. The Philpot lab has been developing a new mouse model of Dup15q syndrome for preclinial translational studies.

Investigating molecular and circuit mechanismsĀ for neurodevelopmental disorders

We aim to discover novel therapeutic opportunities


Click here to see all Philpot lab publications.

Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice. Gu, B., ...,Philpot, B.D. (2019). J Clin Invest.

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice. Gu, B., . . ., Philpot, B. D. (2019). J Clin Invest

Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome. Lee, H. M., Clark, E. P., Kuijer, M. B., . . ., Philpot, B. D. (2018). Mol Autism

Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. Bakker, H., Sidorov, M. S., . . ., Philpot, B. D. (2018). Mol Autism

Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. Sidorov, M. S., Judson, M. C., Kim, H., Rougie, M., . . . Philpot, B. D. (2018). J Neurosci

Common Pathophysiology in Multiple Mouse Models of Pittā€“Hopkins Syndrome. Thaxton, C. L., Kloth A. D., Clark E. P., . . ., Philpot B. D. (2018). J Neurosci