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GENATLAS PHENOTYPE
last update : 21-11-2018
Symbol BAFME7
Location 4q32.1
Name epilepsy, familial adult myoclonic,7
Corresponding gene RAPGEF2
Other symbol(s) FAME7, FCMTE7
Main clinical features
  • familial adult myoclonic epilepsy; age at onset of myoclonic tremor ranged from the early twenties to the seventies
  • EMG showed that the tremor was associated with a relatively rhythmic discharge resembling essential tremor
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)