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Library

Binder of Resources and Research

With whole exome sequence genetic testing, partnerships with DHDDS, and groundbreaking science,  the research for NUS1 is growing. The NUS1 Foundations plans to expand and update speciality publications here so that you can share these studies and research paper with your education and medical care team. 

Find something that is not featured here and should be? Let us know.  

Published Medical Journals

These are published research articles with case study and analysis of NUS1 genetic mutations

1. 2022

"NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?"
Published in Tremor Other Hyperkinet Mov (N Y), National Center for Biotechnology Information 
 

2. 2020

"NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor"
Published in 
https://pubmed.ncbi.nlm.nih.gov/32485575/

3. 2019

"Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report"
Published in BMC Neurol
https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1489-x

5. 2015

"6q22.1 microdeletion and susceptibility to pediatric epilepsy"
Published in European Journal of Human Genetics, National Center for Biotechnology Information 
 

6. 2021

"Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haplo insufficiency"
Published in Genetics in Medicine

7. 2019

"Novel Mutation of NUS1 Gene Presenting With Developmental and Epileptic Encephalopathy and Movement Disorders (P4.8-051)"
Published in American Academy of Neurology Journal

8. 2023

"Case report: splicing effect of a novel heterozygous variant of the NUS1 gene in a child with epilepsy"
Published in Frontiers in Genetics

9. 2020

"Psychosis in NUS1 de novo mutation: New phenotypical presentation"
Published in Clinical Genetics

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