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Miguel E Fiol

1975 …2017

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  • 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
    4 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
    96 Scopus citations
  • Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy

    Fallil, Z., Pardoe, H., Bachman, R., Cunningham, B., Parulkar, I., Shain, C., Poduri, A., Knowlton, R., Kuzniecky, R., Abou-Khalil, B., Alldredge, B., Andermann, E., Bautista, J., Berkovic, S., Boro, A., Cascino, G., Consalvo, D., Crumrine, P., Devinsky, O., Dlugos, D. & 44 others, Epstein, M., Fiol, M., Fountain, N., French, J., Friedman, D., Geller, E., Glauser, T., Glynn, S., Haut, S., Hayward, J., Helmers, S., Kanner, A., Kirsch, H., Kossoff, E., Kuperman, R., Lowenstein, D., McGuire, S., Motika, P., Novotny, E., Ottman, R., Paolicchi, J., Parent, J., Park, K., Risch, N., Sadleir, L., Scheffer, I., Shellhaas, R., Sherr, E., Shih, J., Shinnar, S., Singh, R., Sirven, J., Smith, M., Sullivan, J., Thio, L. L., Venkatasubramanian, A., Vining, E., Von Allmen, G., Weisenberg, J., Widdess-Walsh, P., Winawer, M. R., Acton, E., Hagopian, S. & Sanchez, S., Oct 1 2015, In: Epilepsy and Behavior. 51, p. 321-327 7 p.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

    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. & 101 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., Amron, 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., Cossette, P., Delanty, N., Eichler, E. E., Goldstein, D. B., Han, Y., Heinzen, E. L., Johnson, M. R., Marson, A. G., Mefford, H. C., Nieh, S. E., O'Brien, T. J., Petrou, S., Petrovski, S. & Ruzzo, E. K., 2014, In: American Journal of Human Genetics. 95, 4, p. 360-370 11 p.

    Research output: Contribution to journalArticlepeer-review

    245 Scopus citations
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