Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.
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ABSTRACT:
SUBMITTER: Okazaki T
PROVIDER: S-EPMC8275604 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
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Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.
Okazaki Tetsuya T Yamada Hiroyuki H Matsuura Kaori K Kasagi Noriko N Miyake Noriko N Matsumoto Naomichi N Adachi Kaori K Nanba Eiji E Maegaki Yoshihiro Y
Human genome variation 20210712 1
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. ...[more]
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