Frequently Identified Genetic Developmental and Epileptic Encephalopathy: A Review Focusing on Precision Medicine
Author:
Publisher
The Korean Child Neurology Society
Link
http://annchildneurol.org/upload/pdf/acn-2019-00066.pdf
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1. The contribution of next generation sequencing to epilepsy genetics
2. Editorial: Burden of Illness in People With Epilepsy: From Population-Based Studies to Precision Medicine
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1. Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy;Acta Epileptologica;2023-06-28
2. Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome;Epilepsia;2021-05-19
3. Next-generation sequencing is a powerful method to enhance diagnostic yield in global developmental delay/intellectual disability;Clinical and Experimental Pediatrics;2020-06-15
4. DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification;Nature Communications;2020-05-19
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