Human genes for progressive myoclonus epilepsy 6
Progressive myoclonus epilepsy 6 [DOID:0111449]
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 GOSR2 on chromosome 17q21.32.
Synonyms: progressive myoclonus epilepsy 6, DOID:0111449, EPM6, GOSR2-related progressive myoclonus ataxia, North Sea progressive myoclonus epilepsy ...