GLUT1, GGE, and the resilient fallacy of refuted epilepsy genes
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference13 articles.
1. Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy;Lin;Seizure,2023
2. Epi25 Collaborative, Chen, S., Neale, B.M. & Berkovic, S.F. Shared and distinct ultra-rare genetic risk for diverse epilepsies: a whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries. medRxiv 2023.02.22.23286310 (2023) doi:10.1101/2023.02.22.23286310.
3. Epi4K: gene discovery in 4000 genomes;Epilepsia,2012
4. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies;Am J Hum Genet,2014
5. Sub-genic intolerance, ClinVar, and the epilepsies: a whole-exome sequencing study of 29,165 individuals;Am J Hum Genet,2021
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Epilepsy-associated genes: discovery, clinical significance, and underlying principles of genetic medicine;Seizure: European Journal of Epilepsy;2024-03
2. Genetic Dependence and Genetic Diseases;2023-08-05
3. Common genetic epilepsies, pathogenicity of genes/variants, and genetic dependence;Seizure: European Journal of Epilepsy;2023-07
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