FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2893569148> ?p ?o ?g. }

• W2893569148 endingPage "523" @default.
• W2893569148 startingPage "518" @default.
• W2893569148 abstract "Objective: To summarize the phenotype of epileptic children with SCN2A mutations. Methods: Epileptic patients who were treated in the Pediatric Department of Peking University First Hospital from September 2006 to October 2017 and detected with SCN2A mutations by targeted next-generation sequencing were enrolled. Clinical manifestations of all patients were analyzed retrospectively. Results: A total of 21 patients (16 boys and 5 girls) with SCN2A mutations were collected. Twenty-one SCN2A mutations were identified. Ten patients had mutations inherited from one of their parents and 11 patients had de novo mutations. The age of epilepsy onset was from 2 days to 2 years and 6 months: six patients with seizure onset in neonates (29%) , six patients with seizure onset between 1 month and 3 months of age (29%), three patients with seizure onset between 4 months and 6 months of age, two patients with seizure onset between 7 months and one year of age, and four patients with seizure onset beyond one year of age. Multiple seizure types were observed. The focal seizure was the most common seizure type which was observed in 18 patients (86%) . Spasm seizure was observed in 6 patients (29%) . Other seizure types were rare. In 19 patients, seizures manifested in clusters (90%) . In 3 patients, seizures manifested fever-sensitive. Nine of ten patients with inherited SCN2A mutations had normal development. However, all patients with de novo SCN2A mutations had mild or severer development delay. In 21 patients with SCN2A mutations, five were diagnosed with benign familial infantile epilepsy, 3 with benign familial neonatal-infantile epilepsy, 3 with Ohtahara syndrome, 3 with West syndrome, 2 with encephalopathy with early infantile onset epilepsy, one with febrile seizures plus, one with Dravet syndrome, one with encephalopathy with childhood-onset epilepsy, one with autism with epilepsy and one with intellectual disability with epilepsy. Conclusions: The clinical features of patients with SCN2A mutations include that main seizure onset is the neonate and early infancy, and the main seizure type is the focal seizure, manifested in clusters. The large spectrum of SCN2A-related epilepsy, which not only includes epilepsy with a comparatively favorable prognosis, but also epileptic encephalopathy. De novo mutations often lead to severe phenotype with development delay.目的： 总结SCN2A基因突变导致的癫痫表型谱。 方法： 收集2006年9月至2017年10月在北京大学第一医院儿科诊治的癫痫患儿，且通过靶向捕获二代测序发现SCN2A基因突变阳性者，回顾性总结和分析患儿临床特点。 结果： 共收集21例SCN2A基因突变阳性的患儿，其中男16例、女5例，检测到21种不同的突变类型，其中11例为新生突变，10例为遗传性突变。21例患儿的癫痫发作起病年龄为2日龄~2岁6月龄，其中新生儿期起病6例（29%），1~3月龄起病6例（29%），4~6月龄起病3例，7月龄~1岁起病2例，1岁后起病4例；表现为多种发作类型，其中局灶性发作18例（86%），痉挛发作6例（29%），其他发作类型少见；19例患儿发作有丛集性的特点（90%）；3例患儿发作有热敏感。10例携带SCN2A基因遗传性突变的患儿中，9例智力、运动发育正常；11例携带SCN2A基因新生突变的患儿均有不同程度的智力、运动发育落后。21例患儿包括多种癫痫表型，其中良性家族性婴儿癫痫5例，良性家族性新生儿-婴儿癫痫3例，大田原综合征3例，婴儿痉挛症3例，不能分类的早发癫痫性脑病2例，热性惊厥附加症1例，Dravet综合征1例，儿童期起病的癫痫性脑病1例，孤独症共患癫痫1例，发育落后共患癫痫1例。 结论： SCN2A基因突变导致的癫痫多在新生儿期或婴儿早期起病，发作具有丛集性的特点，局灶性发作最常见；癫痫表型谱广，既可表现为良性预后的癫痫，也可表现为癫痫性脑病，新生突变的患儿表型重，常伴智力、运动发育落后。." @default.
• W2893569148 created "2018-10-05" @default.
• W2893569148 creator A5004994169 @default.
• W2893569148 creator A5014173406 @default.
• W2893569148 creator A5024425898 @default.
• W2893569148 creator A5040222229 @default.
• W2893569148 creator A5044833350 @default.
• W2893569148 creator A5060829492 @default.
• W2893569148 creator A5085283338 @default.
• W2893569148 creator A5090111979 @default.
• W2893569148 date "2018-07-02" @default.
• W2893569148 modified "2023-10-14" @default.
• W2893569148 title "[Phenotype study of SCN2A gene related epilepsy]." @default.
• W2893569148 doi "https://doi.org/10.3760/cma.j.issn.0578-1310.2018.07.009" @default.
• W2893569148 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29996185" @default.
• W2893569148 hasPublicationYear "2018" @default.
• W2893569148 type Work @default.
• W2893569148 sameAs 2893569148 @default.
• W2893569148 citedByCount "2" @default.
• W2893569148 countsByYear W28935691482021 @default.
• W2893569148 countsByYear W28935691482022 @default.
• W2893569148 crossrefType "journal-article" @default.
• W2893569148 hasAuthorship W2893569148A5004994169 @default.
• W2893569148 hasAuthorship W2893569148A5014173406 @default.
• W2893569148 hasAuthorship W2893569148A5024425898 @default.
• W2893569148 hasAuthorship W2893569148A5040222229 @default.
• W2893569148 hasAuthorship W2893569148A5044833350 @default.
• W2893569148 hasAuthorship W2893569148A5060829492 @default.
• W2893569148 hasAuthorship W2893569148A5085283338 @default.
• W2893569148 hasAuthorship W2893569148A5090111979 @default.
• W2893569148 hasConcept C104317684 @default.
• W2893569148 hasConcept C118552586 @default.
• W2893569148 hasConcept C126322002 @default.
• W2893569148 hasConcept C127716648 @default.
• W2893569148 hasConcept C187212893 @default.
• W2893569148 hasConcept C2777767895 @default.
• W2893569148 hasConcept C2778186239 @default.
• W2893569148 hasConcept C2779134260 @default.
• W2893569148 hasConcept C501734568 @default.
• W2893569148 hasConcept C54355233 @default.
• W2893569148 hasConcept C71924100 @default.
• W2893569148 hasConcept C86803240 @default.
• W2893569148 hasConceptScore W2893569148C104317684 @default.
• W2893569148 hasConceptScore W2893569148C118552586 @default.
• W2893569148 hasConceptScore W2893569148C126322002 @default.
• W2893569148 hasConceptScore W2893569148C127716648 @default.
• W2893569148 hasConceptScore W2893569148C187212893 @default.
• W2893569148 hasConceptScore W2893569148C2777767895 @default.
• W2893569148 hasConceptScore W2893569148C2778186239 @default.
• W2893569148 hasConceptScore W2893569148C2779134260 @default.
• W2893569148 hasConceptScore W2893569148C501734568 @default.
• W2893569148 hasConceptScore W2893569148C54355233 @default.
• W2893569148 hasConceptScore W2893569148C71924100 @default.
• W2893569148 hasConceptScore W2893569148C86803240 @default.
• W2893569148 hasIssue "7" @default.
• W2893569148 hasLocation W28935691481 @default.
• W2893569148 hasOpenAccess W2893569148 @default.
• W2893569148 hasPrimaryLocation W28935691481 @default.
• W2893569148 hasRelatedWork W1932292249 @default.
• W2893569148 hasRelatedWork W2043045967 @default.
• W2893569148 hasRelatedWork W2045457451 @default.
• W2893569148 hasRelatedWork W2060743524 @default.
• W2893569148 hasRelatedWork W2063281255 @default.
• W2893569148 hasRelatedWork W2081391125 @default.
• W2893569148 hasRelatedWork W2516639160 @default.
• W2893569148 hasRelatedWork W2584059828 @default.
• W2893569148 hasRelatedWork W2945163262 @default.
• W2893569148 hasRelatedWork W3205618924 @default.
• W2893569148 hasVolume "56" @default.
• W2893569148 isParatext "false" @default.
• W2893569148 isRetracted "false" @default.
• W2893569148 magId "2893569148" @default.
• W2893569148 workType "article" @default.