Matches in SemOpenAlex for { <https://semopenalex.org/work/W3010282034> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W3010282034 endingPage "140" @default.
- W3010282034 startingPage "136" @default.
- W3010282034 abstract "Objective: Tuberous sclerosis complex (TSC) is a multi-system disease with TSC1 and TSC2 genes as the pathogenic genes. The purpose of our study was to analyze the gene mutation in patients with TSC with epilepsy as the main clinical manifestation. The relationship between genotype and phenotype, scalp EEG in patients was analyzed. Methods: The peripheral blood was extracted from 43 patients and their families. TSC gene was detected by second-generation sequencing. Long-term video EEG monitoring and MRI examination were performed to determine the onset area, seizure type and location of nodules. Results: 39 patients had TSC gene mutation, 4 patients did not detect the gene mutation.11 had TSC1 mutations and 28 had TSC2 mutations. 22 mutations were de novo. Patients with TSC2 mutations had earlier seizure and more nodules than patients with TSC1 mutations, but no significant difference in intelligence and spasm were observed. 28 patients had focal origin of scalp EEG, of which 85.7% of TSC2 mutations patients had focal origin. Conclusions: Patients of TSC2 mutations always has an early onset age. Although MRI shows multiple nodules, the onset of EEG is mainly focal origin.目的： 探讨癫痫为主要临床表现的结节性硬化（TSC）患者的基因突变情况，并了解TSC患者的基因型与临床表型、头皮脑电图之间的关系。 方法： 2015年12月至2019年8月，对就诊于清华大学玉泉医院癫痫中心的43例临床表现为癫痫的TSC患者及家属进行了周围血液的提取，采用二代测序的方法对TSC基因进行检测，明确基因突变；并对所有患者进行头皮长程视频脑电图监测和磁共振检查，确定其发作起始区域、发作形式及致痫结节部位。 结果： 43例中39例有TSC基因突变，4例未检测出基因突变。其中11例为TSC1型，28例为TSC2型。22个基因突变为新生突变。TSC2型患者比TSC1型患者起病年龄早，结节数量更多，但是两者在智力方面和痉挛病史方面并未见明显差异。发作期头皮脑电图局灶性起始患者28例，其中TSC2型患者中头皮脑电图局灶性起源的比例较高，为24例，占85.7%。 结论： TSC2型患者往往起病年龄早，虽然磁共振表现为多个结节但是发作期脑电图起始往往为局灶性起源。." @default.
- W3010282034 created "2020-03-13" @default.
- W3010282034 creator A5002762261 @default.
- W3010282034 creator A5003439448 @default.
- W3010282034 creator A5031525738 @default.
- W3010282034 creator A5036328470 @default.
- W3010282034 creator A5040747953 @default.
- W3010282034 creator A5059555975 @default.
- W3010282034 date "2020-01-14" @default.
- W3010282034 modified "2023-10-17" @default.
- W3010282034 title "[Analysis of genotypes, EEG and phenotypes of tuberous sclerosis complex patients]." @default.
- W3010282034 doi "https://doi.org/10.3760/cma.j.issn.0376-2491.2020.02.011" @default.
- W3010282034 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31937054" @default.
- W3010282034 hasPublicationYear "2020" @default.
- W3010282034 type Work @default.
- W3010282034 sameAs 3010282034 @default.
- W3010282034 citedByCount "2" @default.
- W3010282034 countsByYear W30102820342022 @default.
- W3010282034 countsByYear W30102820342023 @default.
- W3010282034 crossrefType "journal-article" @default.
- W3010282034 hasAuthorship W3010282034A5002762261 @default.
- W3010282034 hasAuthorship W3010282034A5003439448 @default.
- W3010282034 hasAuthorship W3010282034A5031525738 @default.
- W3010282034 hasAuthorship W3010282034A5036328470 @default.
- W3010282034 hasAuthorship W3010282034A5040747953 @default.
- W3010282034 hasAuthorship W3010282034A5059555975 @default.
- W3010282034 hasConcept C104317684 @default.
- W3010282034 hasConcept C118552586 @default.
- W3010282034 hasConcept C135763542 @default.
- W3010282034 hasConcept C142724271 @default.
- W3010282034 hasConcept C190283241 @default.
- W3010282034 hasConcept C200844832 @default.
- W3010282034 hasConcept C2776773979 @default.
- W3010282034 hasConcept C2778186239 @default.
- W3010282034 hasConcept C2778980267 @default.
- W3010282034 hasConcept C2779422105 @default.
- W3010282034 hasConcept C2994225774 @default.
- W3010282034 hasConcept C501734568 @default.
- W3010282034 hasConcept C522805319 @default.
- W3010282034 hasConcept C54355233 @default.
- W3010282034 hasConcept C71924100 @default.
- W3010282034 hasConcept C86554907 @default.
- W3010282034 hasConcept C86803240 @default.
- W3010282034 hasConceptScore W3010282034C104317684 @default.
- W3010282034 hasConceptScore W3010282034C118552586 @default.
- W3010282034 hasConceptScore W3010282034C135763542 @default.
- W3010282034 hasConceptScore W3010282034C142724271 @default.
- W3010282034 hasConceptScore W3010282034C190283241 @default.
- W3010282034 hasConceptScore W3010282034C200844832 @default.
- W3010282034 hasConceptScore W3010282034C2776773979 @default.
- W3010282034 hasConceptScore W3010282034C2778186239 @default.
- W3010282034 hasConceptScore W3010282034C2778980267 @default.
- W3010282034 hasConceptScore W3010282034C2779422105 @default.
- W3010282034 hasConceptScore W3010282034C2994225774 @default.
- W3010282034 hasConceptScore W3010282034C501734568 @default.
- W3010282034 hasConceptScore W3010282034C522805319 @default.
- W3010282034 hasConceptScore W3010282034C54355233 @default.
- W3010282034 hasConceptScore W3010282034C71924100 @default.
- W3010282034 hasConceptScore W3010282034C86554907 @default.
- W3010282034 hasConceptScore W3010282034C86803240 @default.
- W3010282034 hasIssue "2" @default.
- W3010282034 hasLocation W30102820341 @default.
- W3010282034 hasOpenAccess W3010282034 @default.
- W3010282034 hasPrimaryLocation W30102820341 @default.
- W3010282034 hasRelatedWork W2021453612 @default.
- W3010282034 hasRelatedWork W2412162169 @default.
- W3010282034 hasRelatedWork W2569343347 @default.
- W3010282034 hasRelatedWork W2581133493 @default.
- W3010282034 hasRelatedWork W2776835520 @default.
- W3010282034 hasRelatedWork W2994645635 @default.
- W3010282034 hasRelatedWork W3010282034 @default.
- W3010282034 hasRelatedWork W3030965915 @default.
- W3010282034 hasRelatedWork W3031635838 @default.
- W3010282034 hasRelatedWork W2556144014 @default.
- W3010282034 hasVolume "100" @default.
- W3010282034 isParatext "false" @default.
- W3010282034 isRetracted "false" @default.
- W3010282034 magId "3010282034" @default.
- W3010282034 workType "article" @default.