Functional Study of NIPA2 Mutations Identified from the Patients with Childhood Absence Epilepsy

Recently many genetic mutations that are associated with epilepsy have been identified. The protein NIPA2 (non-imprinted in Prader-Willi/Angelman syndrome region protein 2) is a highly selective magnesium transporter encoded by the gene NIPA2 in which we have found three mutations (p.I178F, p.N244S...

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Detalles Bibliográficos
Autores principales: Xie, Han, Zhang, Yuehua, Zhang, Pingping, Wang, Jingmin, Wu, Ye, Wu, Xiru, Netoff, Theoden, Jiang, Yuwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209971/
https://www.ncbi.nlm.nih.gov/pubmed/25347071
http://dx.doi.org/10.1371/journal.pone.0109749

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209971/
https://www.ncbi.nlm.nih.gov/pubmed/25347071
http://dx.doi.org/10.1371/journal.pone.0109749

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