title: [The criteria of early detection of biotinidase deficiency-based epilepsy].
abstract: OBJECTIVE
  An analysis of clinical and paraclinical symptomatology of three cases of infant epilepsy due to biotinidase deficiency is presented.
  
  
  METHODS
  The diagnosis took 4 months in the first case and 1 day in the last one.
  
  
  CONCLUSIONS
  It is emphasized that early diagnosisbased on knowing the reference signs of this inherited metabolic disease provides an opportunity to avoid patient's disability or death.
authors.affiliation: Vagner Perm State Academy of Medicine, Perm.
authors.forename: A G
authors.initials: AG
authors.lastname: Malov
authors.affiliation: Vagner Perm State Academy of Medicine, Perm.
authors.forename: E S
authors.initials: ES
authors.lastname: Vasileva
authors.affiliation: Vagner Perm State Academy of Medicine, Perm.
authors.forename: E B
authors.initials: EB
authors.lastname: Serebrennikova
mesh_terms: D001284:Atrophy; D028921:Biotinidase Deficiency / Q000150:complications*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D042241:Early Diagnosis; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014057:Tomography, X-Ray Computed