Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes

BACKGROUND: Infants and children with dominant de novo mutations in GNAO1 exhibit movement disorders, epilepsy, or both. Children with loss-of-function (LOF) mutations exhibit Epileptiform Encephalopathy 17 (EIEE17). Gain-of-function (GOF) mutations or those with normal function are found in patient...

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Detalles Bibliográficos
Autores principales: Feng, Huijie, Larrivee, Casandra L., Demireva, Elena Y., Xie, Huirong, Leipprandt, Jeff R., Neubig, Richard R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347370/
https://www.ncbi.nlm.nih.gov/pubmed/30682176
http://dx.doi.org/10.1371/journal.pone.0211066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347370/
https://www.ncbi.nlm.nih.gov/pubmed/30682176
http://dx.doi.org/10.1371/journal.pone.0211066

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