Miguel E Fiol

1975 …2022

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  • Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

    Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium & EuroEPINOMICS-CoGIE Consortium, 2022, (Accepted/In press) In: Epilepsia. 63, 3

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Diverse genetic causes of polymicrogyria with epilepsy

    Epilepsy Phenome/Genome Project, Epi4K Consortium, Apr 1 2021, In: Epilepsia. 62, 4, p. 973-983 11 p.

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations
  • Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

    Allen, A. S., Berkovic, S. F., Bridgers, J., Cossette, P., Dlugos, D., Epstein, M. P., Glauser, T., Goldstein, D. B., Heinzen, E. L., Jiang, Y., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A. & 33 others, Ren, Z., Scheffer, I. E., Sherr, E., Wang, Q., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H., Fiol, M. E., Epi4K Consortium, Epilepsy Phenome Genome Project & EuroEPINOMICS-RES Consortium, Jun 1 2017, In: European Journal of Human Genetics. 25, 7, p. 894-899 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., Gormley, P., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R. & 111 others, Kuhlenbäumer, G., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H., Pal, D., Palotie, A., Pendziwiat, M., Robbiano, A., Roelens, F., Rosenow, F., Selmer, K., Serratosa, J. M., Sisodiya, S., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., von Spiczak, S., Weber, Y., Weckhuysen, S., Zara, F., Abou-Khalil, B., Alldredge, B. K., Andermann, E., Andermann, F., Amrom, D., Bautista, J. F., Berkovic, S. F., Bluvstein, J., Boro, A., Cascino, G., Consalvo, D., Crumrine, P., Devinsky, O., Dlugos, D., Epstein, M. P., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glauser, T., Glynn, S., Haas, K., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., Kuzniecky, R., Lowenstein, D. H., McGuire, S. M., Motika, P. V., Novotny, E. J., Ottman, R., Paolicchi, J. M., Parent, J., Park, K., Poduri, A., Sadleir, L., Scheffer, I. E., Shellhaas, R. A., Sherr, E., Shih, J. J., Singh, R., Sirven, J., Smith, M. C., Sullivan, J., Thio, L. L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Allen, A. S., Berkovic, S. F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Goldstein, D. B., Han, Y., Heinzen, E. L., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., Nieh, S. E., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A., Ruzzo, E. K., Scheffer, I. E. & Sherr, E., Jan 5 2017, In: American Journal of Human Genetics. 100, 1, p. 179 1 p.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access
    1 Scopus citations
  • Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

    Allen, A. S., Bellows, S. T., Berkovic, S. F., Bridgers, J., Burgess, R., Cavalleri, G., Chung, S. K., Cossette, P., Delanty, N., Dlugos, D., Epstein, M. P., Freyer, C., Goldstein, D. B., Heinzen, E. L., Hildebrand, M. S., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mayeux, R. & 66 others, Mebane, C., Mefford, H. C., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Pickrell, W. O., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Scheffer, I. E., Sills, G. J., Thomas, R. H., Wang, Q., Abou-Khalil, B., Alldredge, B. K., Amrom, D., Andermann, E., Andermann, F., Bautista, J. F., Bluvstein, J., Boro, A., Cascino, G. D., Consalvo, D., Crumrine, P., Devinsky, O., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glauser, T., Glynn, S., Haas, K., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., Motika, P. V., Novotny, E. J., Paolicchi, J. M., Parent, J. M., Park, K., Poduri, A., Sadleir, L. G., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Singh, R. K., Sirven, J., Smith, M. C., Sullivan, J., Thio, L. L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J. L., Widdess-Walsh, P. & Winawer, M. R., Feb 1 2017, In: The Lancet Neurology. 16, 2, p. 135-143 9 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    122 Scopus citations