Author
Seattle Children's Research InstituteORCID 0000-0001-5688-0703Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Angela M. Bard, Lindsay V. Clark, Erdal Coşgun…·Jan‐Marino Ramirez
This study identifies known pathogenic variants and new candidates in SUID using WGS, highlighting genetic factors related to heart disease and redox metabolism.
John K. Mich, Jiyun Ryu, Aguan Daniel Wei…·Franck K. Kalume
This study demonstrates that interneuron-specific AAV-mediated SCN1A gene replacement significantly rescues Dravet syndrome symptoms in mouse models.
Achira Roy, Victor Z. Han, Angela M. Bard…·Kathleen J. Millen
The paper identifies PI3K and AKT inhibition as effective in suppressing PIK3CA-driven epileptiform activity in a mouse model, offering a potential therapeutic strategy for drug-resistant epilepsy.
Irene Bolea, Alejandro Gella, Elisenda Sanz…·Albert Quintana
The paper identifies two genetically-defined neuronal populations in Ndufs4KO mice that drive distinct pathological features of Leigh Syndrome.