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

J Neuropathol Exp Neurol. 2022 Apr 27;81(5):377-380. doi: 10.1093/jnen/nlac013.
No abstract available

MeSH terms

  • Brain Diseases*
  • GTP-Binding Protein gamma Subunits* / genetics
  • Heterozygote
  • Humans
  • Mutation / genetics
  • Phenotype

Substances

  • BSCL2 protein, human
  • GTP-Binding Protein gamma Subunits