Objective: Objective of the study was the molecular genetic aspects of child cerebral palsy and symptomatic epilepsy in children.

Background: From a genetic point of view, all forms of epilepsy can be divided into monogenic diseases and diseases with hereditary predisposition. Recent advances in molecular genetic studies of epilepsy have revealed that the basis of some forms of epilepsy is the disruption of the activity of ion channels.

Method: We analyzed 30 indicators of the study of the polymorphism of the SCN1A gene in 40 children with child cerebral palsy with symptomatic epilepsy. The control group served 20 healthy children.

Results: From the entire sample of patients with cerebral palsy in children (n = 20), 3184 A – G polymorphism was found in the homozygous state (3184 * A / * A) in 8 patients (20%), in the heterozygous state (3184 * A / * G) – in 11 (28%), and the homozygous genotype (3184 * G / * G) was determined only in 1 patient (2%). While among children with symptomatic epilepsy (n = 40), 3184 A – G polymorphism occurred in the homozygous state (3184 * A / A) in 22 patients (55%), in the heterozygous state (3184 * A / * G) – in 4 (10%). In healthy children (n = 20), 3184 A – G polymorphism was found in the homozygous state (3184 * A / A) in 6 patients (60%), in the heterozygous state (3184 * A / * G) – in 4 (40%).

Conclusion: the majority of children with cerebral palsy mutations in the SCN1A gene encoding the a1 subunit of the neuronal sodium channel, which leads to an increase in the time to restore the activity of the channel after inactivation, which in turn also leads to neuron hyperactivity. The changes in the nucleotide sequence of the SCN1A gene that we discovered may contribute to the development of susceptibility to epileptic encephalopathy in children of Uzbek nationality.

« Back to 2019 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/modern-aspects-of-genetics-of-child-cerebral-palsy-with-symptomatic-epilepsy/