• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review.

作者信息

Pan Zou, Chen Chen, Yin Fei, Peng Jing

机构信息

Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, 410008, China.

Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, 410008, China.

出版信息

World J Pediatr. 2022 Sep;18(9):636-641. doi: 10.1007/s12519-022-00567-9. Epub 2022 Jul 19.

DOI:10.1007/s12519-022-00567-9
PMID:35852783
Abstract
摘要

相似文献

1
Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review.伴有癫痫的NBEA相关神经发育障碍的基因型和表型谱：病例系列及文献综述
World J Pediatr. 2022 Sep;18(9):636-641. doi: 10.1007/s12519-022-00567-9. Epub 2022 Jul 19.
2
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.NBEA：具有早发性全面性癫痫表型的发育性疾病基因。
Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25.
3
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.神经发育和全面性癫痫疾病基因 NBEA 中新生变异的功能分析。
Mol Genet Metab. 2021 Sep-Oct;134(1-2):195-202. doi: 10.1016/j.ymgme.2021.07.013. Epub 2021 Aug 9.
4
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.新发 ARHGEF9 错义变异与女性神经发育障碍相关：扩大女性 ARHGEF9 疾病的基因型和表型谱。
Neurogenetics. 2021 Mar;22(1):87-94. doi: 10.1007/s10048-020-00622-5. Epub 2020 Sep 17.
5
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.MYT1L 相关神经发育障碍：40 例新病例的描述及临床和分子方面的文献复习。
Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8.
6
Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy.SPTAN1 相关疾病的家族内变异性：从良性惊厥伴轻度胃肠炎到发育性脑病。
Eur J Paediatr Neurol. 2020 Sep;28:237-239. doi: 10.1016/j.ejpn.2020.07.008. Epub 2020 Aug 3.
7
Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant.生酮饮食对与从头开始的 NBEA 致病性变异相关的耐药性癫痫性脑病的有益作用。
Epileptic Disord. 2021 Oct 1;23(5):739-743. doi: 10.1684/epd.2021.1327.
8
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.对 6994 名伴有癫痫的神经发育障碍个体进行靶向基因测序。
Genet Med. 2019 Nov;21(11):2496-2503. doi: 10.1038/s41436-019-0531-0. Epub 2019 May 6.
9
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.神经发育障碍中 SHANK3 从头突变的基因型与表型相关性。
Am J Med Genet A. 2018 Dec;176(12):2668-2676. doi: 10.1002/ajmg.a.40666. Epub 2018 Dec 9.
10
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.扩展 KCNB1 变异在发育性和癫痫性脑病中的遗传和表型相关性：27 例新病例及文献综述。
Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4.

引用本文的文献

1
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.一例两种罕见遗传病患者的脑畸形、神经发育障碍和癫痫：重叠表型
Neurogenetics. 2024 Dec 26;26(1):16. doi: 10.1007/s10048-024-00795-3.