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GENATLAS PHENOTYPE
last update : 24-03-2015
Symbol BAFME2
Location 2q11.1
Name benign adult familial myoclonic epilepsy 2
Other name(s)
  • familial cortical myoclonic tremor with epilepsy 2
  • autosomal dominant cortical myoclonus and epilepsy
  • Corresponding gene ADRA2B
    Other symbol(s) FCMTE2, ADCME
    Main clinical features
  • distal myoclonus and seizures, onset in adulthood (mean 25 years) with distal, rhythmic involuntary movements resembling tremors, and infrequent generalized tonic-clonic seizures or rarely intractable complex partial seizures, which were often followed by secondary generalization
  • EEG showed focal frontotemporal as well as generalized interictal abnormalities, neurophysiologic studies revealed giant somatosensory evoked potentials (SEPs), enhanced long-loop C-reflexes, and premovement cortical spikes by the jerk-locked averaging method (JLA), suggesting a cortical origin
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)