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

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

doi:10.1038/s41439-021-00157-7

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

Hum Genome Var. 2021 Jul 12;8(1):26. doi: 10.1038/s41439-021-00157-7.

Authors

Tetsuya Okazaki¹, Hiroyuki Yamada², Kaori Matsuura³, Noriko Kasagi^{3

4}, Noriko Miyake⁵, Naomichi Matsumoto⁵, Kaori Adachi⁶, Eiji Nanba^{3

7}, Yoshihiro Maegaki²

Affiliations

¹ Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan. t-okazaki@tottori-u.ac.jp.
² Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
³ Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
⁴ Department of Fundamental Nursing, School of Health Science, Tottori University Faculty of Medicine, Yonago, Japan.
⁵ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
⁶ Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.
⁷ Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University, Yonago, Japan.

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.