Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

OBJECTIVE: Mutations of ATP1A3 have been associated with Rapid Onset Dystonia-Parkinsonism and more recently with Alternating Hemiplegia of Childhood. Here we report one child with catastrophic early life epilepsy and shortened survival, and another with epilepsy, episodic prolonged apnea, postnatal...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Epilepsia
Main Authors: Paciorkowski, Alex R., McDaniel, Sharon S., Jansen, Laura A., Tully, Hannah, Tuttle, Emily, Ghoneim, Dalia H., Tupal, Srinivasan, Gunter, Sonya A., Vasta, Valeria, Zhang, Qing, Tran, Thao, Liu, Yi B., Ozelius, Laurie J., Brashear, Allison, Sweadner, Kathleen J., Dobyns, William B., Hahn, Si Houn
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4363281/
https://ncbi.nlm.nih.gov/pubmed/25656163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.12914
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados