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GENATLAS PHENOTYPE
last update : 28-03-2013
Symbol ENFL4
Location 8p21.2
Name epilepsy, nocturnal frontal lobe, type 4
Corresponding gene CHRNA2
Main clinical features
  • clustered attacks of epileptic episodes originating from the frontal lobe during sleep
  • episodes of sudden awakening, vocalization or grunting, fearful expression, fear sensation, tongue movements, and nocturnal wandering, suggesting frontolimbic involvement, and at EEG, frontal lobe involvement
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     markedly increasing the receptor sensitivity to acetylcholine
    Remark(s)