CHANNELOPATHIES IN THE GENESIS OF INTELLECTUAL DEVELOPMENTAL DISABILITY IN CHILDREN WITH EPILEPSY

Authors

  • SHAMANSUROV Shaanvar Shamuratovich
  • SAIDAZIZOVA Shakhlo Khibziddinovna
  • SAMADOV Furkat Nasibjanovich
  • TULYAGANOVA Nodirakhon Malikovna
  • ABDUYAMINOVA Ziyodakhon Djakhangirovna

Keywords:

epilepsy, genetic, children, developmental delay, intellectual disability, channelopathies

Abstract

Epilepsy and intellectual/developmental disabilities still be the most common disorders in pediatric neurology [1; 6]. Those conditions often occur together, that is why we need to exclude their common pathogenetic basis [8; 4; 9]. Psychomotor development and intelligence are targets for intractable seizures, their chronic blow leads to the hard cognitive and social disability [3; 7]. The target group of this study is a child population, with age period from 0 to 7 years. The common feature of the study group is the early age of disease manifestation (from 1 to 2 years of age). It is the period of the maximum formation of the central nervous system and all vital skills. Any pathology during this period leads to inevitable destructive processes in the central nervous system. It is extremely important to provide assistance during this period, when the process of negative impact on development can be reversible.

References

Белоусова Е. Д. Генетика эпилепсии : зачем и как обследовать детей с эпилепсией // лекция. 2014. C. 4–8.

Avakyan G. N. Recommendations of the Russian League Against Epilepsy (ILAE) on the use of magnetic resonance imaging in the diagnosis of epilepsy // Epilepsy and paroxysmal conditions. 2019. № 3 (11). C. 208–232.

Braun K. P. J. Preventing cognitive impairment in children with epilepsy // Current Opinion in Neurology. 2017. № 2 (30). C. 140–147.

Brunklaus A., Lal D. Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application // Developmental Medicine and Child Neurology. 2020. Т. 62. № 7. C. 784–792.

Katz G., Lazcano-Ponce E. Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. // Salud publica de Mexico. 2008. 132-41.Mei D. et al. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies // Epilepsia. 2019. № S3 (60). C. S2–S7.

Nicita F. et al. The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies // Seizure. 2012. № 1 (21). C. 3–11.

Osborne J. P. et al. The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS) // Epilepsia. 2019. № 9 (60). C. 1861–1869.

Rees M. I. The genetics of epilepsy - The past, the present and future // Seizure. 2010. Т. 19. № 10. C. 680–683.

Published

2025-08-09