https://www.selleckchem.com/pr....oducts/pf-06650833.h
All of them eventually developed profound intellectual disability. Epilepsy of varied severity was present in all patients. Most patients required enteral feeding due to aspirations. Eight patients died before puberty (age range 2-13 years). Brain MRI showed marked cerebral atrophy and early prominent cerebellar atrophy (vermianhemispheres) accompanied by pontine ventral flattening. The founder c.1112TC mutation in MED17 gene is expressed by a unique and homogeneous clinical phenotype with distinctive MRI findings. This muta
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