Authors
We identified a genetic cause in 69% of patients with EIMFS. We highlight the genetic heterogeneity of EIMFS with 9 newly implicated genes, bringing the total number to 33. Mosaicism was observed in probands and parents, carrying critical implications for recurrence risk. EIMFS pathophysiology involves diverse molecular processes from gene and protein regulation to ion channel function and solute trafficking. ANN NEUROL 2019;86:821-831.
No takes yet. Share an insight, caveat, or question.
Burgess et al. (2019) studied this question.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: