Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival-Reference-Cited by-同舟云学术

Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival

Published:2021-03-09 Issue:11 Volume:71 Page:2405-2414
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Khorrami Mehdi^ORCID,Khorram Erfan^ORCID,Yaghini Omid^ORCID,Rezaei Mojgan^ORCID,Hejazifar Arash^ORCID,Iravani Omid^ORCID,Yazdani Vida^ORCID,Riahinezhad Maryam^ORCID,Kheirollahi Majid^ORCID

Funder

Isfahan University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s12031-021-01810-0.pdf

Reference30 articles.

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2. Accogli A, Brais B, Tampieri D, La Piana R (2019) Long-standing psychiatric features as the only clinical presentation of vanishing white matter disease. J Neuropsychiatry Clin Neurosci 31(3):276–279

3. Alsalem A, Shaheen R, Alkuraya FS (2012) Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype. Gene 496(2):141–143