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Norway

PMID:30682176  

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

Huijie Feng | Casandra L Larrivee | Elena Y Demireva | Huirong Xie | Jeff R Leipprandt | Richard R Neubig
PloS one | 2019

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 patients with Neurodevelopmental Disorder with Involuntary Movements (NEDIM). There is no animal model with a human mutant GNAO1 allele.

Pubmed ID: 30682176

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GraphPad Prism (tool)

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