title: [The diagnosis of idiopathic epilepsy in children based on the algorithm of molecular-genetic studies].
abstract: OBJECTIVE
  To study mutations and polymorphisms in the sodium channels genes, determining the development of idiopathic epilepsy (IE).
  
  
  METHODS
  The study of SCN1A gene by direct Sanger sequencing in 53 patients and targeted resequencing of the regions of 34 genes in 40 patients with different clinical forms of IE was performed.
  
  
  RESULTS
  Seven mutations (c.3022G>T, c.3637C>T, c.1144G>T, c.80G>C, c.1603C>T, c.2427G>A and c.1131A>C) were detected among 53 patients by direct Sanger sequencing of SCN1A gene. The mutations of SCN1A gene (2 - nonsense mutation, 5 - missense mutation) were identified in 7/40 (17.5%) patients with epilepsy using high-performance sequencing, Mutations in sodium channel genes encoding other subunits: SCN1B, SCN2A, SCN9A were identified in 6 patients.
  
  
  CONCLUSIONS
  As epileptic encephalopathy is polygenic, it is important to conduct genetic testing of more genes (primarily sodium channel genes - SCN1B, SCN2A, SCN9A etc.) using special gene panels to find the molecular defect in DNA.
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia; Pirogov Russian National Research Medical University, Moscow, Russia.
authors.forename: T V
authors.initials: TV
authors.lastname: Kozhanova
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia; Pirogov Russian National Research Medical University, Moscow, Russia.
authors.forename: S S
authors.initials: SS
authors.lastname: Zhylina
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia.
authors.forename: S O
authors.initials: SO
authors.lastname: Aivazian
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia.
authors.forename: T V
authors.initials: TV
authors.lastname: Ananyeva
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia.
authors.forename: A A
authors.initials: AA
authors.lastname: Abramov
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia.
authors.forename: M S
authors.initials: MS
authors.lastname: Belenikin
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia.
authors.forename: T I
authors.initials: TI
authors.lastname: Meshcheryakova
authors.affiliation: Scientific and Practical Center of Children Medical Care, Moscow, Russia; Pirogov Russian National Research Medical University, Moscow, Russia.
authors.forename: G R
authors.initials: GR
authors.lastname: Mutovin
authors.affiliation: Pirogov Russian National Research Medical University, Moscow, Russia.
authors.forename: N N
authors.initials: NN
authors.lastname: Zavadenko
mesh_terms: D000465:Algorithms; D002648:Child; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics; D004829:Epilepsy, Generalized; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human