RESEARCH FOCUS

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 mechanisms for neurodevelopmental disorders

We aim to discover novel therapeutic opportunities

SELECTED RECENT PUBLICATIONS

Click here to see all Philpot lab publications.

Collaborative Cross mice reveal extreme epilepsy phenotypes and genetic loci for seizure susceptibility. Gu B, Shorter JR, Williams LH, Bell TA, Hock P, Dalton KA, Pan Y, Miller DR, Shaw GD, Philpot BD, Pardo-Manuel de Villena F. (2020). Epilepsia.

Visual Sequences Drive Experience-Dependent Plasticity in Mouse Anterior Cingulate Cortex. Sidorov MS, Kim H, Rougie M, Williams B, Siegel JJ, Gavornik JP, Philpot BD. (2020). Cell Reports.

Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice. Gu B, Zhu M, Glass MR, Rougié M, Nikolova VD, Moy SS, Carney PR, Philpot BD. (2019). J Clin Invest.

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice. Gu B, Carstens KE, Judson MC, Dalton KA, Rougié M, Clark EP, Dudek SM, Philpot BD. (2019). J Clin Invest.

Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. den Bakker H, Sidorov MS, Fan Z, Lee DJ, Bird LM, Chu CJ, Philpot BD. (2018). Mol Autism.

Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. Sidorov MS, Judson MC, Kim H, Rougie M, Ferrer AI, Nikolova VD, Riddick NV, Moy SS, Philpot BD. (2018). J Neurosci.

Common Pathophysiology in Multiple Mouse Models of Pitt–Hopkins Syndrome. Thaxton C, Kloth AD, Clark EP, Moy SS, Chitwood RA, Philpot BD. (2018). J Neurosci.