Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia

A series of neurological manifestations such as intellectual disability and epilepsy are closely related to hypomagnesemia. Cyclin M2 (CNNM2) proteins, as a member of magnesium (Mg(2+)) transporters, were found along the basolateral membrane of distal renal tubules and involved in the reabsorption o...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Xiucui, Bao, Shijia, Wang, Wei, Shi, Xulai, Hu, Ying, Li, Feng, Zhao, Qianlei, Zheng, Feixia, Lin, Zhongdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417836/
https://www.ncbi.nlm.nih.gov/pubmed/34490037
http://dx.doi.org/10.3389/fgene.2021.705734

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8417836/
https://www.ncbi.nlm.nih.gov/pubmed/34490037
http://dx.doi.org/10.3389/fgene.2021.705734

Ejemplares similares