More than 4,000 disease-associated genes have been found, and about 50 epilepsy-associated genes were newly discovered between 2017-2019 alone.6-7 AmbitCare is here to help you stay up-to-date.
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Helbig KL, Farwell Hagman KD, Shinde DN, Mroske C, Powis Z, Li S, Tang S, Helbig I. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016 Sep;18(9):898-905. doi:10.1038/gim.2015.186.
Fernández IS, Loddenkemper T, Gaínza-Lein M, Sheidley BR, Poduri A. Diagnostic yield of genetic tests in epilepsy : A meta-analysis and cost-effectiveness study. Neurology. 2019;92(5):e418-e428. doi:10.1212/wnl.0000000000006850
Schroeder, B.E., Gonzaludo, N., Everson, K. et al. The diagnostic trajectory of infants and children with clinical features of genetic disease. npjGenom.Med. 6, 98(2021). doi:10.1038/s41525-021-00260-2
Haviland, I., Daniels, C., Greene, C., et al. Genetic Diagnosis in Pediatric Epilepsy Impacts Medical Management AES 2021; Abstract 2.319.
Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain. 2019;142(8):2303-2318. doi:10.1093/brain/awz195
Bamshad MJ, Nickerson DA, Chong JX. Mendelian Gene Discovery: Fast and Furious with No End in Sight. The American Journal of Human Genetics. 2019;105(3):448-455. doi:10.1016/j.ajhg.2019.07.011
Hebbar M, Mefford HC. Recent advances in epilepsy genomics and genetic testing. F1000Research. 2020;9:185. doi:10.12688/f1000research.21366.1
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Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.
