OBO ID: DOID:0111450
Term Name: progressive myoclonus epilepsy 9 Search Ontology:
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 progressive myoclonus epilepsy 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNB2 ?Epilepsy, progressive myoclonic, 9 616540
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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