Condition: Jankovic Rivera syndrome
rs145873635 in
ASAH1 gene and
Jankovic Rivera syndrome
PMID 27026573 2016 ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.
PMID 22703880 2012 Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
PMID 24164096 2014 Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.