Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant-Reference-Cited by-同舟云学术

Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

Published:2021-07-12 Issue:1 Volume:8 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Okazaki Tetsuya,Yamada Hiroyuki,Matsuura Kaori,Kasagi Noriko,Miyake Noriko,Matsumoto Naomichi,Adachi Kaori,Nanba Eiji,Maegaki Yoshihiro

Abstract

AbstractEpilepsy and white matter abnormality have been reported in DYRK1A-related intellectual disability syndrome; however, the clinical course has yet to be elucidated. Here, we report the clinical course of an 18-year-old male with a novel heterozygous DYRK1A variant (NM_001396.4: c.957C>G, p.Tyr319*); based on previous reports, epilepsy with this syndrome tends to be well controlled. Follow-up MRIs of the patient’s lesion revealed slightly reduced signal intensity compared to the first image.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-021-00157-7.pdf

Reference9 articles.

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