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

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

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,...

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Bibliographic Details
Main Authors: Jing Y. Hsu, Daniah H. Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Clinical Case Reports
Subjects:
DNA copy number variations
epilepsy
intellectual disability
NUS1 protein
protein glycosylation
Online Access:https://doi.org/10.1002/ccr3.70022
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https://doi.org/10.1002/ccr3.70022

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