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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...
Autores principales: | Feng, Huijie, Larrivee, Casandra L., Demireva, Elena Y., Xie, Huirong, Leipprandt, Jeff R., Neubig, Richard R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
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Materias: | |
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 |
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