NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor-Reference-Cited by-同舟云学术

NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

Published:2020-08 Issue: Volume:164 Page:106371
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Araki Kunihiko,Nakamura Ryoichi,Ito Daisuke,Kato Kohji,Iguchi Yohei,Sahashi Kentaro,Toyama Miho,Hamada Kensuke,Okamoto Nobuhiko,Wada Yoshinao,Nakamura Tomohiko,Ogi Tomoo,Katsuno Masahisa

Funder

KAKENHI

Special Coordination Funds for Rare and Intractable Diseases

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference22 articles.

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3. Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report;Den;BMC Neurol.,2019

4. XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency;Guo;J. Allergy Clin. Immunol.,2015

5. Coding mutations in NUS1 contribute to Parkinson’s disease;Guo;Proc. Natl. Acad. Sci. U S A,2018

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1. Case report: Novel NUS1 variant in a Chinese patient with tremors and intellectual disability;Frontiers in Genetics;2024-04-09

2. Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsy;2024-04-02

3. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances;Genes;2024-01-27

4. DHDDS and NUS1: A Converging Pathway and Common Phenotype;Movement Disorders Clinical Practice;2023-11-28

5. Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus;Frontiers in Genetics;2023-10-10