Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Xian, Julie; Parthasarathy, Shridhar; M. Ruggiero, Sarah; Balagura, Ganna; Fitch, Eryn; L. Helbig, Katherine; Gan, Jing; Ganesan, Shiva; C. Kaufman, Michael; A. Ellis, Colin; Lewis‐Smith, David; D. Galer, Peter; Cunningham, Kristin; O’Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga de Góes, Fernanda; Moufawad El Achkar, Christelle; H Doering, Jan; Furia, Francesca; García‐Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik, Anna; C. A. Lammertse, Hanna; Lee, Jeehun; T. Mackie, Alexandra; Misra‐Isrie, Mala; E. Olson, Heather; Sexton, Emma; Rosen Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Marie Thalwitzer, Kim; A. van Berkel, Annemiek; M. van Haelst, Mieke; J. Yuskaitis, Christopher; Weckhuysen, Sarah; L. Prosser, Benjamin; Son Rigby, Charlene; Demarest, Scott; R. Pierce, Samuel; Zhang, Yuehua; S. Møller, Rikke; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo

doi:10.1093/brain/awab327

Public

Assessing the landscape of STXBP1-related disorders in 534 individuals

Published in Brain • Sep 10, 2021

Authors:

Julie Xian

Shridhar Parthasarathy

Sarah M. Ruggiero

Abstract

Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have not been observed so far. Here, we harmonized clini...

Subject

Gerontology

Medicine

Geography

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