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GENATLAS PHENOTYPE
last update : 27-09-2011
Symbol EBN1
Location 20q13.33
Name benign familial neonatal convulsions, 1
Other name(s)
  • epilepsy, benign familial neonatal, 1
  • seizures, benign familial neonatal
    • Corresponding gene KCNQ2
    Other symbol(s) BFNC, EBN, AEM2
    Main clinical features
  • characterized by frequent, brief seizures on or after the second day of life wich often disappear spontaneously within a few weeks, excluding a major contribution to idiopathic, generalized epilepsy spectra with age-related onset from childhood to adolescence
    • Genetic determination autosomal dominant
    Related entries . including any cases of neonatal convulsions with epileptic encephalopathy . including cases in which the neonatal convulsions are followed, later in life, by myokymia
    Function/system disorder neurology
    Type disease
    Gene product
    Name potassium voltage-gated channel, KQT-like subfamily, member 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein located within TM5, affecting a highly conserved serine in amino acid position 247 of the predicted protein, responsible of epileptic encephalopathy
    unknown   abnormal protein/loss of function  
    missense   abnormal protein/loss of function (K526N), disrupting the tri-dimensional conformation of a C-terminal region of the channel subunit involved in accessory protein binding
    missense   unknown L339R mutation in helix A (Alaimo 2009)
    Remark(s) . degradation signal derived from distal C-terminal frame-shift mutations which impairs channel function (PMID: 21937445))