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GENATLAS PHENOTYPE
last update : 21-11-2018
Symbol BAFME6
Location 16p12.1
Name epilepsy, myoclonic, familial adult, 6
Corresponding gene TNRC6A
Other symbol(s) FAME6, FCMTE6
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)