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1
, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.编码βV-血影蛋白的基因导致一种智力残疾、发育迟缓与癫痫发作的综合征。
Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022.
2
Variant interpretation using population databases: Lessons from gnomAD.使用人群数据库进行变异解释：来自 gnomAD 的经验。
Hum Mutat. 2022 Aug;43(8):1012-1030. doi: 10.1002/humu.24309. Epub 2021 Dec 16.
3
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.扩展 SPTAN1 的临床表型：从 DEE5 到偏头痛、癫痫和无脑室下异位而无智力障碍。
Am J Med Genet A. 2022 Jan;188(1):147-159. doi: 10.1002/ajmg.a.62507. Epub 2021 Sep 30.
4
The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.

Commentary: , encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures.

作者信息

Van De Vondel Liedewei, De Winter Jonathan, Baets Jonathan

机构信息

Department of Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Edegem, Belgium.

Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.

出版信息

Front Mol Neurosci. 2022 Sep 27;15:1017684. doi: 10.3389/fnmol.2022.1017684. eCollection 2022.

DOI:10.3389/fnmol.2022.1017684
PMID:36238261
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9552555/
Abstract
摘要