Article

Mouse Models of <i>GNAO1</i> -Associated Movement Disorder: Allele- and sex-specific differences in phenotypes

2018-06-29

Abstract excerpt

<h4>Background: </h4> 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 hu...

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Literature Corpus work: 38e7ca56-6bb8-522c-ba71-691ef03f814c
DOI: 10.1101/358614

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