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GENATLAS PHENOTYPE
last update : 28-03-2013
Symbol ENFL5
Location 9q34
Name epilepsy, nocturnal frontal lobe, type 5
Other name(s) autosomal dominant nocturnal frontal lobe epilepsy
Corresponding gene KCNT1
Other symbol(s) ADNFLE
Main clinical features
  • focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep, and some patients may develop behavioral or psychiatric manifestations and/or intellectual disability
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s)
    Genotype/Phenotype correlations
  • individuals with a KCNT1 mutation showed features of a more severe ENFl phenotype, with an earlier mean age of onset (at 6 years of age compared with 10 years of age in classical ENFL (PMID: 23086396))
  • mutation is reversed by quinidine (PMID: 24591078))