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

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

Abstract Epilepsy 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,...

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Bibliographic Details
Main Authors: Tetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, Noriko Kasagi, Noriko Miyake, Naomichi Matsumoto, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
Format: Article
Language:English
Published: Nature Publishing Group 2021-07-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00157-7
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Summary:Abstract Epilepsy 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.
ISSN:2054-345X

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