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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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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spelling doaj-47378ff7dfce445ea1bd231ae62e863a2021-07-18T11:34:32ZengNature Publishing GroupHuman Genome Variation2054-345X2021-07-01811310.1038/s41439-021-00157-7Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variantTetsuya Okazaki0Hiroyuki Yamada1Kaori Matsuura2Noriko Kasagi3Noriko Miyake4Naomichi Matsumoto5Kaori Adachi6Eiji Nanba7Yoshihiro Maegaki8Division of Clinical Genetics, Tottori University HospitalDivision of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori UniversityDivision of Clinical Genetics, Tottori University HospitalDivision of Clinical Genetics, Tottori University HospitalDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineResearch Initiative Center, Organization for Research Initiative and Promotion, Tottori UniversityDivision of Clinical Genetics, Tottori University HospitalDivision of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori UniversityAbstract 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.https://doi.org/10.1038/s41439-021-00157-7
collection DOAJ
language English
format Article
sources DOAJ
author Tetsuya Okazaki
Hiroyuki Yamada
Kaori Matsuura
Noriko Kasagi
Noriko Miyake
Naomichi Matsumoto
Kaori Adachi
Eiji Nanba
Yoshihiro Maegaki
spellingShingle Tetsuya Okazaki
Hiroyuki Yamada
Kaori Matsuura
Noriko Kasagi
Noriko Miyake
Naomichi Matsumoto
Kaori Adachi
Eiji Nanba
Yoshihiro Maegaki
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
Human Genome Variation
author_facet Tetsuya Okazaki
Hiroyuki Yamada
Kaori Matsuura
Noriko Kasagi
Noriko Miyake
Naomichi Matsumoto
Kaori Adachi
Eiji Nanba
Yoshihiro Maegaki
author_sort Tetsuya Okazaki
title Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
title_short Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
title_full Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
title_fullStr Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
title_full_unstemmed Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
title_sort clinical course of epilepsy and white matter abnormality linked to a novel dyrk1a variant
publisher Nature Publishing Group
series Human Genome Variation
issn 2054-345X
publishDate 2021-07-01
description 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.
url https://doi.org/10.1038/s41439-021-00157-7
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