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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 disabili...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Eboni I Lance, Martin Kronenbuerger, Julie S Cohen, Orion Furmanski, Harvey S Singer, Ali Fatemi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: SAGE Publishing 2018-10-01
Cyfres:SAGE Open Medical Case Reports
Mynediad Ar-lein:https://doi.org/10.1177/2050313X18807622
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