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GENATLAS PHENOTYPE
last update : 10-09-2010
Symbol EPM1
Location 21q22.3
Name myoclonic epilepsy of Unverricht-Lundborg
Other name(s)
  • epilepsy progressive myoclonic 1
  • Baltic myoclonic epilepsy
    • Corresponding gene CSTB
    Other symbol(s) BME, ULD
    Main clinical features
  • including Baltic, Mediterranean and Swiss types, excluding idiopathic generalized epilepsy (see TMEM1)
  • characterized by onset between 6 and 18 years of age, generalized epileptic seizures, myotonus and progressive neurological deterioration, a distinctive EEG, a progressive course
  • progressive myoclonic epilepsy, a frequent disorder in Finland,; onset occurs about age 10, severity is variable; progressive incapacitation results from the myoclonus, with only mild mental deterioration
    • Genetic determination autosomal recessive
    Related entries including cerebellar ataxia and dementia
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion     an unstable minisatellite repeat (dodecamer) expansion in the promoter region (30 to 80 copies ) accounting for the majority of EPM1 disease alleles worldwide
    missense   abnormal protein/loss of function p.G50E
    deletion   absent protein c.168+1_18del), which affects splicing of CSTB
    Remark(s)