Litcius/Paper detail

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris Lange, Jasper J. van der Smagt, Golder N. Wilson, Holly Dubbs, Ethan M. Goldberg, Lia Zitano, Caleb Bupp, José E. Martínez, Myriam Srour, Andrea Accogli, Afnan AlHakeem, Meira R. Meltzer, Andrea Gropman, Carole Brewer, Richard Caswell, Tara Montgomery, Caoimhe McKenna, Shane McKee, Corinna Powell, Pradeep Vasudevan, Angela F. Brady, Shelagh Joss, Carolyn Tysoe, Grace Noh, Mark A. Tarnopolsky, Lauren Brady, Muhammad Zafar, Samantha A. Schrier Vergano, Brianna Murray, L. Sawyer, Bryan E. Hainline, Katherine Sapp, Danielle DeMarzo, Darcy J. Huismann, Ingrid M. Wentzensen, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Lindsay Rhodes, William B. Dobyns, François Lecoquierre, Alice Goldenberg, Tilman Polster, Susanne Axer-Schaefer, Konrad Platzer, Chiara Klöckner, Trevor L. Hoffman, Daniel G. MacArthur, Melanie O’Leary, Grace E. VanNoy, Eleina England, Vinod Varghese, Heather C. Mefford

2021Genetics in Medicine35 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaIntellectual disabilityExome sequencingAutism spectrum disorderEpilepsyGlobal developmental delayNeurodevelopmental disorderPhenotypeNeurologyAutismMedicineGeneticsAngelman syndromeNeuroscienceBiologyPediatricsPsychiatryGeneGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesBlood disorders and treatments