Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004352 (
autism
)
32,579
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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 disability, and the abrupt onset of choreo-athetotic movements. The patient was diagnosed with an
EEF1A2
variant by whole exome sequencing. His movement disorder responded dramatically to treatment with tetrabenazine. To the best of our knowledge, this is the first report of successful treatment of a hyperkinetic movement disorder in the setting of
EEF1A2
mutation. A trial with tetrabenazine should be considered in cases with significant
choreoathetosis
.
...
PMID:Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant. 3037 30
