Progressive basal ganglia damage and EE-SWAS in a patient with a VPS13D pathogenic variant
Epileptic Disord
.
2023 Feb;25(1):117-119.
doi: 10.1002/epd2.20031.
Epub 2023 Apr 17.
Authors
Douglas R Nordli 3rd
1
,
Fernando N Galan
2
Affiliations
1
Mayo Clinic Florida, Jacksonville, Florida, USA.
2
Nemours Children's Health, Jacksonville, Florida, USA.
PMID:
36951159
DOI:
10.1002/epd2.20031
No abstract available
MeSH terms
Basal Ganglia* / diagnostic imaging
Basal Ganglia* / pathology
Humans
Proteins*
Substances
VPS13D protein, human
Proteins