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Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Autor: de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber

Publikováno v: Molecular genetics and genomic medicine, 4(5), 568-580. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 4(5), 568-580. John Wiley and Sons Inc.
de Kovel, C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei, D, Møller, R S, Pendziwiat, M, Stamberger, H, Suls, A, Weckhuysen, S, Koeleman, B P C & EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 4(5), 568. John Wiley and Sons Inc.

BACKGROUND: Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation.MET

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025dab4670934e26f779833ea21ea6ed
https://pure.amc.nl/en/publications/targeted-sequencing-of-351-candidate-genes-for-epileptic-encephalopathy-in-a-large-cohort-of-patients(f62cb049-4457-4e53-9a45-97fa456012c5).html

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