Delineating clinical and developmental outcomes in STXBP1-related disorders
Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch, Jonathan Toib, Michael C. Kaufman, Danielle deCampo, Kristin G. Cunningham, Samuel R. Pierce, James R. Goss, Charlene Son Rigby, Steffen Syrbe, Michael J. Boland, , Ingo Helbig
This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.
Brain · Nov 28, 2023Peer-reviewedGenetic & Genomic Medicine