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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Okazaki, Tetsuya, Yamada, Hiroyuki, Matsuura, Kaori, Kasagi, Noriko, Miyake, Noriko, Matsumoto, Naomichi, Adachi, Kaori, Nanba, Eiji, Maegaki, Yoshihiro
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8275604/
https://ncbi.nlm.nih.gov/pubmed/34253714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00157-7
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