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1. Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability

Author

Jing Y. Hsu, Daniah H. Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, and Gholson J. Lyon

Subjects
DNA copy number variations, epilepsy, intellectual disability, NUS1 protein, protein glycosylation, Medicine, Medicine (General), R5-920
Abstract

ABSTRACT Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations.

Published
2025
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