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

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*...

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Detalles Bibliográficos
Autores principales: Okazaki, Tetsuya, Yamada, Hiroyuki, Matsuura, Kaori, Kasagi, Noriko, Miyake, Noriko, Matsumoto, Naomichi, Adachi, Kaori, Nanba, Eiji, Maegaki, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275604/
https://www.ncbi.nlm.nih.gov/pubmed/34253714
http://dx.doi.org/10.1038/s41439-021-00157-7
Descripción
Sumario: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.

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