FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313408616> ?p ?o ?g. }

• W4313408616 endingPage "54" @default.
• W4313408616 startingPage "43" @default.
• W4313408616 abstract "Background. The problem of congenital cerebral palsy (CP) is relevant due to the limited complexity of habilitation and social adaptation of such patients. The genetic aspects of the pathogenesis of the disease are being actively studied. CP is often accompanied by epilepsy, which is characterized by refractoriness. Aim. To analyze the clinical, genetic and neuroimaging aspects of this pathology in CP patients. Materials and methods. The study included 136 patients with CP. Genetic studies were carried out on venous blood material using NGS and Sanger trio methods. The distribution of genes into groups of determinants was carried out. Results. In 136 patients, 91 genes with pathogenic variants were found. There were more of them in the determinant groups CS (regulation of cytoskeleton formation and functioning), ENM (regulation of neuronal membrane excitability), CMTR (control of chromatin modifications, transcription and replication processes), NTS (regulation of neurotransmitter metabolism and synapse functioning). The distribution of genes according to the degree of motor deficiency was specific: in all groups, except for canalopathy genes (ENM): certain genes corresponded to each degree of motor deficiency. This specificity was less pronounced in the ENM group. The largest number of cases of abnormalities in the structure of the brain was in the CMTR (control of chromatin modifications, transcription and replication processes), CS (regulation of the formation and functioning of the cytoskeleton) and ENM (regulation of the excitability of the neuronal membrane) 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 CP 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, and the degree of refractoriness of the epileptic process largely determines the determinant of mitochondrial function regulation." @default.
• W4313408616 created "2023-01-06" @default.
• W4313408616 creator A5023910238 @default.
• W4313408616 creator A5027025569 @default.
• W4313408616 creator A5031726841 @default.
• W4313408616 date "2022-12-17" @default.
• W4313408616 modified "2023-10-14" @default.
• W4313408616 title "Congenital cerebral palsy with epilepsy: clinical and genetic comparisons" @default.
• W4313408616 cites W1991923792 @default.
• W4313408616 cites W1993454819 @default.
• W4313408616 cites W2026792650 @default.
• W4313408616 cites W2056531158 @default.
• W4313408616 cites W2146159853 @default.
• W4313408616 cites W243377161 @default.
• W4313408616 cites W2543582892 @default.
• W4313408616 cites W2560921984 @default.
• W4313408616 cites W2775679462 @default.
• W4313408616 cites W2900935404 @default.
• W4313408616 cites W2903517639 @default.
• W4313408616 cites W2905077642 @default.
• W4313408616 cites W2913099235 @default.
• W4313408616 cites W2919431828 @default.
• W4313408616 cites W2936395489 @default.
• W4313408616 cites W2965204205 @default.
• W4313408616 cites W2968038169 @default.
• W4313408616 cites W2980077446 @default.
• W4313408616 cites W2990376140 @default.
• W4313408616 cites W3090167646 @default.
• W4313408616 cites W3101116611 @default.
• W4313408616 cites W3122577694 @default.
• W4313408616 cites W3134624991 @default.
• W4313408616 cites W3145271842 @default.
• W4313408616 cites W3192133646 @default.
• W4313408616 doi "https://doi.org/10.17650/2073-8803-2022-17-3-43-54" @default.
• W4313408616 hasPublicationYear "2022" @default.
• W4313408616 type Work @default.
• W4313408616 citedByCount "0" @default.
• W4313408616 crossrefType "journal-article" @default.
• W4313408616 hasAuthorship W4313408616A5023910238 @default.
• W4313408616 hasAuthorship W4313408616A5027025569 @default.
• W4313408616 hasAuthorship W4313408616A5031726841 @default.
• W4313408616 hasBestOaLocation W43134086161 @default.
• W4313408616 hasConcept C118552586 @default.
• W4313408616 hasConcept C169760540 @default.
• W4313408616 hasConcept C2778186239 @default.
• W4313408616 hasConcept C2779421357 @default.
• W4313408616 hasConcept C54355233 @default.
• W4313408616 hasConcept C71924100 @default.
• W4313408616 hasConcept C86803240 @default.
• W4313408616 hasConceptScore W4313408616C118552586 @default.
• W4313408616 hasConceptScore W4313408616C169760540 @default.
• W4313408616 hasConceptScore W4313408616C2778186239 @default.
• W4313408616 hasConceptScore W4313408616C2779421357 @default.
• W4313408616 hasConceptScore W4313408616C54355233 @default.
• W4313408616 hasConceptScore W4313408616C71924100 @default.
• W4313408616 hasConceptScore W4313408616C86803240 @default.
• W4313408616 hasIssue "3" @default.
• W4313408616 hasLocation W43134086161 @default.
• W4313408616 hasOpenAccess W4313408616 @default.
• W4313408616 hasPrimaryLocation W43134086161 @default.
• W4313408616 hasRelatedWork W1580274369 @default.
• W4313408616 hasRelatedWork W2002128513 @default.
• W4313408616 hasRelatedWork W2014128422 @default.
• W4313408616 hasRelatedWork W2137007804 @default.
• W4313408616 hasRelatedWork W2140475196 @default.
• W4313408616 hasRelatedWork W2903502120 @default.
• W4313408616 hasRelatedWork W2983489758 @default.
• W4313408616 hasRelatedWork W4386222605 @default.
• W4313408616 hasRelatedWork W2092874662 @default.
• W4313408616 hasRelatedWork W2621300571 @default.
• W4313408616 hasVolume "17" @default.
• W4313408616 isParatext "false" @default.
• W4313408616 isRetracted "false" @default.
• W4313408616 workType "article" @default.