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本文引用的文献

1
Expanding the phenotype of PURA-related developmental epileptic encephalopathy.
Epileptic Disord. 2022 Apr 1;24(2):445-446. doi: 10.1684/epd.2021.1407.
2
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.扩展 CHD2 相关疾病的遗传和表型谱：从早期神经发育障碍到成年期癫痫。
Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29.
3
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.KCNT1的表型谱：一个包含多种癫痫综合征（包括轻度局灶性癫痫）的新家族。
J Neurol. 2022 Apr;269(4):2162-2171. doi: 10.1007/s00415-021-10808-y. Epub 2021 Sep 19.
4
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.KCNT1 相关性癫痫和癫痫性脑病：表型和突变谱。
Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219.
5
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.婴儿癫痫伴游走性局灶性发作的遗传学特征
Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619.
6
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.
7
Clinical and molecular characterization of -related severe early-onset epilepsy.- 相关严重早发性癫痫的临床和分子特征。
Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1.
8
De novo KCNT1 mutations in early-onset epileptic encephalopathy.新发性 KCNT1 突变导致的早发性癫痫性脑病。
Epilepsia. 2015 Sep;56(9):e121-8. doi: 10.1111/epi.13072. Epub 2015 Jul 3.
9
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
10
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.新生功能获得性 KCNT1 通道突变导致婴儿局灶性癫痫伴游走性阵挛。
Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.

Zeroing in on Phenotypes While Also Broadening Our Understanding of KCNT1-Related Epilepsy.

作者信息

Joshi Charuta

机构信息

Department of Neurology, Children's Hospital Colorado, Aurora, CO, USA.

出版信息

Epilepsy Curr. 2022 Apr 14;22(5):291-293. doi: 10.1177/15357597221096002. eCollection 2022 Sep-Oct.

DOI:10.1177/15357597221096002
PMID:36285205
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9549234/
Abstract
摘要