A Novel, Heterozygous BSCL2 Variant in Association With Early-Onset Epileptic Encephalopathy

Stanley et al.

J Neuropathol Exp Neurol. 2022 Apr 27;81(5):377-380.

DOI: 10.1093/jnen/nlac013.

https://pubmed.ncbi.nlm.nih.gov/35290466/