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Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations
OBJECTIVE: To define molecular mechanisms underlying the clinical spectrum of epilepsy and movement disorder in individuals with de novo mutations in the GNAO1 gene. METHODS: We identified all GNAO1 mutations reported in individuals with epilepsy (early infantile epileptiform encephalopathy 17) or m...
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| Publicado no: | Neurology |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5580866/ https://ncbi.nlm.nih.gov/pubmed/28747448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004262 |
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