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Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.

Rodolfo ToninSerena CatarziAnna CaciottiElena ProcopioCarla MariniRenzo GuerriniAmelia Morrone
Published in: Journal of neurology (2018)
We strengthen the association of Asn188Ser with the type 3 GD phenotype and progressive myoclonus epilepsy. Our data confirm that in silico predictions and mRNA analysis are mandatory in discriminating pathological mutations from the background of harmless polymorphisms, especially synonymous changes.
Keyphrases
  • multiple sclerosis
  • binding protein
  • electronic health record
  • transcription factor
  • molecular docking
  • data analysis
  • temporal lobe epilepsy
  • deep learning