This paper investigates functional impairments in Syngap1 mutant mice, identifying translational biomarkers in both in vitro and in vivo neurophysiological data.

bioRxiv · Jul 24, 2023 · PreprintNeuroscience

Gait as a Quantitative Translational Outcome Measure inAngelman Syndrome

Stela P. Petkova, Anna Adhikari, Elizabeth L. Berg, Timothy A. Fenton, Jessica B. Duis, Jill L. Silverman

This study uses automated gait analysis in an Angelman Syndrome mouse model to identify quantitative motor impairments, showing their translational relevance for therapeutic development.

Autism Research · Mar 10, 2022Peer-reviewedNeuroscience

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

Jess Haigh, Anna Adhikari, Nycole A. Copping, Tyler W. Stradleigh, A. Ayanna Wade, Rinaldo Catta-Preta, Linda Su-Feher, Iva Zdilar, Sarah J. Morse, Timothy A. Fenton, Anh Nguyen, Diana Quintero, Samrawit Agezew, Michael Sramek, Ellie J. Kreun, , Alex S. Nord

This study shows that deleting a non-canonical regulatory region of Scn1a in mice leads to reduced Scn1a expression and epileptic symptoms.

Genome Medicine · Apr 26, 2021Peer-reviewedNeuroscience

Neuroanatomy and Behaviour in Mice with a Haploinsufficiency of AT-Rich Interactive Domain 1B (ARID1B) Throughout Development

Jacob Ellegood, Stela P. Petkova, Adrienne I. Kinman, Lily R. Qiu, Anna Adhikari, A. Ayanna Wade, Darren Fernandes, Zsuzsa Lindenmaier, Amie Creighton, Lauryl M. J. Nutter, Alex S. Nord, Jill L. Silverman, Jason P. Lerch

This study investigates the effects of Arid1b haploinsufficiency in mice, revealing sex-dependent neuroanatomical and behavioral phenotypes associated with neurodevelopmental disorders.

Molecular Autism · Mar 23, 2021Peer-reviewedNeuroscience