On Saturday the 13th of October the first group of STXBP1-E families came to the VUmc to participate in the new study on STXBP1-Encephalopathy.
Claudia Persoon (CNCR-FGA) & the DCV team published a study on how many secretory vesicles are found in different CNS neurons (this paper is about vesicle pools, not swimming pools!) and how many vesicles fuse upon stimulation. The paper is featured on the cover of EMBO J. this month.
On Oct. 13, the 1st STXBP1 Patient Clinic Day will take place at VUmc in Amsterdam. The day is part of our studies on STXBP1-Encephalopathy (STXBP1-E) in a collaboration between FGA-CNCR, Clinical Genetics and VU spin-off company NBT Analytics.