De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick Devine, Sandra C. Donkervoort, Jamie L. Fraser, , Konrad Platzer
This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.
Genetics in Medicine · Dec 9, 2020Peer-reviewedGenetic & Genomic Medicine