Search Ontology:
Human Disease

progressive myoclonus epilepsy 1A

Term ID
DOID:0111452
Synonyms
  • EPM1A
Definition
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. https://www.ncbi.nlm.nih.gov/pubmed/8596935
References
Ontology
Human Disease   ( DOID:0111452 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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