No abstract available
Keywords:
AP5Z1; SPG48; epileptic seizures; hereditary spastic paraplegia; rare disease; spastic paraplegia 48; whole exome sequencing.
Publication types
-
Letter
-
Multicenter Study
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Humans
-
Mutation
-
Pedigree
-
Phenotype
-
Rare Diseases
-
Spastic Paraplegia, Hereditary* / diagnosis
-
Spastic Paraplegia, Hereditary* / genetics