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Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant

Pathogenic variants in EEF1A2, a gene encoding a eukaryotic translation elongation factor, have been previously reported in pediatric cases of epileptic encephalopathy and intellectual disability. We report a case of a 17-year-old male with a prior history of epilepsy, autism, intellectual disabilit...

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Detalles Bibliográficos
Autores principales:	Lance, Eboni I, Kronenbuerger, Martin, Cohen, Julie S, Furmanski, Orion, Singer, Harvey S, Fatemi, Ali
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202747/ https://www.ncbi.nlm.nih.gov/pubmed/30377530 http://dx.doi.org/10.1177/2050313X18807622

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