Mtorc1 Functional Assay Revealsszt2loss-of-function Variants and a Founder In-Frame Deletion
Jeffrey D. Calhoun,Miriam C. Aziz,Hannah C. Happ,Jonathan Gunti,Colleen Gleason,Najma Mohamed,Kristy Zeng,Meredith Hiller,Emily Bryant,Divakar S. Mithal,Irena Bellinski,Lisa Kinsley,Mona Grimmel,Eva M. C. Schwaibold,Constance Smith-Hicks,Anna Chassevent,Marcello Scala,Andrea Accogli,Annalaura Torella,Pasquale Striano,Valeria Capra,Lynne M. Bird,Issam Ben-Sahra,Nina Ekhilevich,Tova Hershkovitz,Karin Weiss,John Millichap,Elizabeth E. Gerard,Gemma L. Carvill Brain a journal of neurology（2022）
Key words
epilepsy,mTOR,SZT2,variant,genetics
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