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Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

Autor: Issam Ben-Sahra, Mona Grimmel, Marcello Scala, Nina Ekhilevich, Valeria Capra, Hannah C Happ, Gemma L. Carvill, John Millichap, Lynne M. Bird, Anna Chassevent, Meredith Hiller, Eva M. C. Schwaibold, Tova Hershkovitz, Miriam C. Aziz, Najma Mohamed, Constance Smith-Hicks, Irena Bellinski, Elizabeth E. Gerard, Andrea Accogli, Kristy Zeng, Colleen Gleason, Jonathan Gunti, Lisa Kinsley, Pasquale Striano, Emily Bryant, Karin Weiss, Jeffrey D. Calhoun, Divakar S. Mithal, Annalaura Torella

Biallelic pathogenic variants in SZT2 result in a neurodevelopmental disorder with shared features, including early-onset epilepsy, developmental delay, macrocephaly, and corpus callosum abnormalities. SZT2 is as a critical scaffolding protein in the

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