Elizaveta I VolodyaevaRussian Medical Academy of Continuous Professional Education, Russia
Title: Genetic Factors of Cerebral Palsy with Epilepsy
Purpose: Study of genetic abnormalities in patients with cerebral palsy suffering from epilepsy.
Method: The Next Generation Sequencing (NGS) study was conducted in 373 patients with cerebral palsy and epilepsy. In 136 (36.5%) patients identified genetic variants were validated by Sanger sequencing and classified as pathogenic. The pathogenic variants were detected in 91 genes. The distribution of genes into groups of determinants was carried out.
Result: There were more genes in the determinant groups ENM (regulation of neuronal membrane excitability) 20,5%, CMTR (control of chromatin modifications, transcription and replication processes) 14,7%, CS (regulation of cytoskeleton formation and functioning) 13,2%, NTS (regulation of neurotransmitter metabolism and synapse functioning) 10,3%. The distribution of genes according to the degree of motor deficiency was specific: in all groups, except for canalopathy genes (ENM). Brain defects revealed in the CMTR (control of chromatin modifications, transcription and replication processes) 25,5%, CS (regulation of the formation and functioning of the cytoskeleton) 9,6% and ENM (regulation of the excitability of the neuronal membrane) 9,6% groups. The RMF group (regulation of the functions of the mitochondrial apparatus) was characterized by the highest resistance to epilepsy. In cases from the group with the canalopathy genes (ENM), the epileptic process was not the most refractory.
Conclusions: According to the contribution to the pathogenesis of cerebral palsy with epilepsy, the distribution of determinants for the provision of excitability and conduction of the nervous tissue (ENM and NTS), the regulation of neuroontogenesis processes (NOG and CMTR), and the predetermination of enzymatic defects leading to storage diseases (GSD) are permissible. The determinant ENM is responsible for both the formation of motor deficits and the formation of the epileptic process. At the same time, its influence on motor deficit is nonspecific.
WILL BE UPDATED SOON.