title: [Genetics and treatment of early infantile epileptic encephalopathies].
abstract: Epileptic encephalopathies (EE) are the group of progressive conditions with various etiologies that can produce neurocognitive deficit both per se and due to constant epileptiform discharges. Epileptic encephalopathies constitute about 15% of epilepsy in childhood and 40% of all seizures occurring in the first 3 years of life. Ten syndrome forms of EE are identified. Genetic factors contribute to 70-80% of all epileptic diseases and approximately 40% of idiopathic epilepsies have a monogenic mode of inheritance. Thirty-five genes of EE have been identified and the search is still continuing. The marked genetic heterogeneity of early EE, including 16 with autosomal-dominant-, 13 with autosomal-recessive-, 4 with X-linked recessive- and 2 with X-linked autosomal inheritance, was shown. The article describes differentiated approaches to the treatment of certain EE syndromes. Recent publications record the effectiveness of targeted therapy for certain forms of monogenic early EE (stiripentol in SCN1A mutations, diphenine in SCN8A mutations, levetiracetam in STXBP1 mutations). These results indicate the necessity for accurate diagnosis of genetic variants in early infantile EE for preventive actions in burdened families and for increasing the effectiveness of treatment.
authors.affiliation: Veltischev Research and Clincal Institute of Pediatrics in Pirogov Russian National Research Medical University, Moscow, Russia.
authors.forename: A A
authors.initials: AA
authors.lastname: Sharkov
authors.affiliation: Research Centre of Medical Genetics, Moscow, Russia.
authors.forename: I V
authors.initials: IV
authors.lastname: Sharkova
authors.affiliation: Veltischev Research and Clincal Institute of Pediatrics in Pirogov Russian National Research Medical University, Moscow, Russia.
authors.forename: E D
authors.initials: ED
authors.lastname: Belousova
authors.affiliation: Research Centre of Medical Genetics, Moscow, Russia.
authors.forename: E L
authors.initials: EL
authors.lastname: Dadali
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D013036:Spasms, Infantile / Q000235:genetics* / Q000628:therapy