Search Ontology:
Human Disease

progressive myoclonus epilepsy 9

Term ID
DOID:0111450
Synonyms
  • EMP9
  • PME type 9
  • progressive myoclonic epilepsy due to LMNB2 deficiency
  • progressive myoclonus epilepsy type 9
Definition
A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/25954030
References
Ontology
Human Disease   ( DOID:0111450 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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