The expanding spectrum of movement disorders in genetic epilepsies
@article{Papandreou2019TheES, title={The expanding spectrum of movement disorders in genetic epilepsies}, author={Apostolos Papandreou and Federica Rachele Danti and Robert Spaull and Vincenzo Leuzzi and Amy Mctague and Manju A. Kurian}, journal={Developmental Medicine \& Child Neurology}, year={2019}, volume={62} }
An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy‐dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease‐specific management strategies in a timely fashion…
16 Citations
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Five children from four families with biallelic pathogenic variants in UBA5 presented with global developmental delay, epilepsy, axial hypotonia, appendicular hypertonia, and a movement disorder, including dystonia in four, with evidence for some limited genotype–phenotype correlation.
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