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

Internet

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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