Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
Author:
Funder
Deutscher Akademischer Austauschdienst
KSU | College of Medicine, King Saud University
Princess Nourah Bint Abdulrahman University
Deutsche Forschungsgemeinschaft
Stiftung 'no epilep'
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41431-024-01541-x.pdf
Reference19 articles.
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2. Ottman, R, Risch, N Genetic Epidemiology and Gene Discovery in Epilepsy. In: Noebels JL, Avoli M, Rogawski MA, et al. (eds). Jasper’s Basic Mechanisms of the Epilepsies. 4th ed. National Center for Biotechnology Information (US), Bethesda (MD), 2012. Available from: https://www.ncbi.nlm.nih.gov/books/NBK98200/.
3. Helbig I, Heinzen EL, Mefford HC, the ILAE Genetics Commission. Primer Part 1-The building blocks of epilepsy genetics. Epilepsia. 2016;57:861–8. https://doi.org/10.1111/epi.13381.
4. Sánchez Fernández I, 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:e418–28. https://doi.org/10.1212/WNL.0000000000006850.
5. Bittles AH, Black ML. Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci. 2010;107:1779–86. https://doi.org/10.1073/pnas.0906079106.
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