A novel missense creatine mutant of CaBP4, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4

BACKGROUND: CaBP4 encodes Ca(2+)-binding protein 4, a neuronal Ca(2+)-binding protein that participates in many cellular processes by regulating the concentration of free Ca(2+) ions. De novo CaBP4 variants have been identified as a cause of congenital stationary night blindness (CSNB). However, we...

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Detalles Bibliográficos
Autores principales: Guo, Yuxiong, Miao, Qinfei, Zhang, Yuxin, Wang, Chun, Liang, Mingjuan, Li, Xueping, Qiu, Weifeng, Shi, Gangan, Zhai, Qiongxiang, Chen, Zhihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8976675/
https://www.ncbi.nlm.nih.gov/pubmed/35378956
http://dx.doi.org/10.21037/tp-22-54

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8976675/
https://www.ncbi.nlm.nih.gov/pubmed/35378956
http://dx.doi.org/10.21037/tp-22-54

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