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GENATLAS PHENOTYPE
last update : 16-09-2020
Symbol EPM6A
Location 17q21.32
Name myoclonic epilepsy-6 with ataxia
Corresponding gene GOSR2
Other symbol(s) EPM6
Main clinical features
  • action myoclonus, tonic-clonic seizures, and progressive neurological decline
  • early-onset ataxia, action myoclonus by age 6, scoliosis, and mildly elevated serum creatine kinase
  • Ramsay Hunt syndrome, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course,and in any cases, dystroglycanopathy is associated (PMID: 29855340))
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s) . (c.430G>T, p.Gly144Trp) mutation leading to a loss of function that results in failure of the GOSR2 protein to localize to the cis-Golgi (PMID: 27618868))
  • GOSR2 mutations cause fragmentation of the presynaptic cytoskeleton coupled with transsynaptic instability and hyperactive neurotransmission (PMID: 28978487))