Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia

BACKGROUND: Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The PRIMPOL variant has only been identified in Chinese patients with high myopi...

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Detalles Bibliográficos
Autores principales: Yuan, Haiming, Wang, Qingming, Li, Yufeng, Cheng, Shuangxi, Liu, Jianxin, Liu, Yanhui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203802/
https://www.ncbi.nlm.nih.gov/pubmed/32375772
http://dx.doi.org/10.1186/s12881-020-01035-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203802/
https://www.ncbi.nlm.nih.gov/pubmed/32375772
http://dx.doi.org/10.1186/s12881-020-01035-9

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