progressive myoclonus epilepsy 6

Term ID

DOID:0111449

Synonyms

• EPM6
• GOSR2-related progressive myoclonus ataxia
• North Sea progressive myoclonus epilepsy
• PME type 6
• Progressive myoclonus epilepsy type 6

Definition

A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. https://www.ncbi.nlm.nih.gov/pubmed/21549339

References

• GARD:3872
• MIM:614018
• ORDO:280620

Ontology

Human Disease   ( DOID:0111449 )