Research output

Research output per year 1975 1983 1993 2017 2024

• 21 Article
• 1 Comment/debate
• 1 Review article

Research output per year

Research output per year

Search results

• 2024

  The role of copy number variants in the genetic architecture of common familial epilepsies

  Epi4K Consortium, Mar 2024, In: Epilepsia. 65, 3, p. 792-804 13 p.

  Research output: Contribution to journal › Article › peer-review
• 2022

  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, Mar 2022, In: Epilepsia. 63, 3, p. 723-735 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Generalized Epilepsy 100%
  • Whole Exome Sequencing 87%
  • Genes 12%
  • Odds Ratio 11%
  • Confidence Intervals 10%
  10 Scopus citations
• 2021

  Diverse genetic causes of polymicrogyria with epilepsy

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

  Research output: Contribution to journal › Article › peer-review

  • Polymicrogyria 100%
  • Epilepsy 54%
  • Partial deletion Chromosome 15q 34%
  • Genes 26%
  • Megalencephaly 20%
  17 Scopus citations
• 2017

  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 othersRen, 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 journal › Article › peer-review

  Open Access

  • Lennox Gastaut Syndrome 100%
  • Brain Diseases 95%
  • Infantile Spasms 90%
  • Recessive Genes 47%
  • Genes 40%
  7 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 othersKuhlenbäumer, 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 journal › Comment/debate › peer-review

  Open Access

  • Human Genetics 100%
  • Brain Diseases 77%
  • Names 77%
  • Synaptic Transmission 76%
  • Epilepsy 68%
  2 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 othersMebane, 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 journal › Article › peer-review

  Open Access

  • Genetic Variation 100%
  • Epilepsy 87%
  • Case-Control Studies 83%
  • Partial Epilepsy 45%
  • Generalized Epilepsy 34%
  164 Scopus citations
• 2015

  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 othersEpstein, 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 journal › Article › peer-review

  • Periventricular Nodular Heterotopia 100%
  • Epilepsy 50%
  • Seizures 25%
  • Malformations of Cortical Development 8%
  • Choristoma 8%
  12 Scopus citations
• 2014

  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 othersKuhlenbäumer, 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 journal › Article › peer-review

  • Brain Diseases 100%
  • Synaptic Transmission 98%
  • Mutation 58%
  • Genes 42%
  • Lennox Gastaut Syndrome 17%
  342 Scopus citations
• 2013

  De novo mutations in epileptic encephalopathies

  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., Hitomi, Y., Howell, K. B., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Lu, Y. F., Madou, M. R. Z., Marson, A. G., Mefford, H. C., & 51 othersEsmaeeli Nieh, S., O'Brien, T. J., Ottman, R., Petrovski, S., Poduri, A., Ruzzo, E. K., Scheffer, I. E., Sherr, E. H., Yuskaitis, C. J., Abou-Khalil, B., Alldredge, B. K., Bautista, J. F., Boro, A., Cascino, G. D., Consalvo, D., Crumrine, P., Devinsky, O., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glynn, S., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., McGuire, S. M., Motika, P. V., Novotny, E. J., Paolicchi, J. M., Parent, J. M., Park, K., Shellhaas, R. A., Shih, J. J., Singh, R., Sirven, J., Smith, M. C., Sullivan, J., Lin Thio, L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J. L., Widdess-Walsh, P. & Winawer, M. R., 2013, In: Nature. 501, 7466, p. 217-221 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Brain Diseases 100%
  • Mutation 58%
  • Genes 30%
  • Lennox Gastaut Syndrome 22%
  • Infantile Spasms 20%
  1182 Scopus citations
• 2009

  Pulmonary Vein Thrombosis After Lung Transplantation Presenting as Stroke

  Uhlmann, E. J., Dunitz, J. M. & Fiol, M. E., Feb 2009, In: Journal of Heart and Lung Transplantation. 28, 2, p. 209-210 2 p.

  Research output: Contribution to journal › Article › peer-review

  • Lung Transplantation 100%
  • Pulmonary Veins 98%
  • Thrombosis 66%
  • Stroke 58%
  • Embolectomy 39%
  22 Scopus citations
• 1995

  Language Function After Temporal Lobectomy Without Stimulation Mapping of Cortical Function

  Davies, K. G., Maxwell, R. E., Beniak, T. E., Destafney, E. & Fiol, M. E., Feb 1995, In: Epilepsia. 36, 2, p. 130-136 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Anterior Temporal Lobectomy 100%
  • Language 57%
  • Amobarbital 13%
  • Memory 13%
  • Language Tests 12%
  48 Scopus citations
• 1994

  Language function following subdural grid‐directed temporal lobectomy

  Davies, K. G., Maxwell, R. E., Jennum, P., Dhuna, A., Beniak, T. E., Destafney, E., Gates, J. R. & Fiol, M. E., Sep 1994, In: Acta Neurologica Scandinavica. 90, 3, p. 201-206 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Language 100%
  • Temporal Lobe 25%
  • Electrodes 24%
  • Amobarbital 20%
  • Drug Resistant Epilepsy 15%
  35 Scopus citations
• 1993

  Effect of Isoflurane (Forane) on Intraoperative Electrocorticogram

  Fiol, M. E., Boening, J. A., Cruz‐Rodriguez, R. & Maxwell, R., Sep 1993, In: Epilepsia. 34, 5, p. 897-900 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Isoflurane 100%
  • Epilepsy 24%
  • Alfentanil 20%
  • Craniotomy 15%
  • Inhalation 13%
  38 Scopus citations

• Intraoperative EEG recording during corpus callosum surgery

  Fiol, M. E. & Pretzel, K. P., 1993, In: American Journal of EEG Technology. 33, 4, p. 277-281 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Corpus Callosum 100%
  • Electroencephalography 75%
  • Seizures 69%
  • Drug Resistant Epilepsy 25%
  • Syncope 24%

• Outcome of resective surgery for intractable partial epilepsy guided by subdural electrode arrays

  Jennum, P., Dhuna, A., Davies, K., Fiol, M. & Maxwell, R., Jun 1993, In: Acta Neurologica Scandinavica. 87, 6, p. 434-437 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Partial Epilepsy 100%
  • Drug Resistant Epilepsy 96%
  • Electrodes 73%
  • Seizures 65%
  • Electrocorticography 59%
  38 Scopus citations

• Value of Intraoperative EEG Changes During Corpus Callosotomy in Predicting Surgical Results

  Fiol, M. E., Gates, J. R., Mireles, R., Maxwell, R. E. & Erickson, D. M., Jan 1993, In: Epilepsia. 34, 1, p. 74-78 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Electroencephalography 100%
  • Seizures 91%
  • Corpus Callosum 65%
  • Drug Resistant Epilepsy 22%
  23 Scopus citations
• 1991

  The prognostic value of residual spikes in the postexcision electrocorticogram after temporal lobectomy

  Fiol, M. E., Gates, J. R., Torres, F. & Maxwell, R. E., Apr 1991, In: Neurology. 41, 4, p. 512-516 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Seizures 100%
  • Epilepsy 46%
  • General Anesthesia 16%
  • Therapeutics 3%
  53 Scopus citations
• 1990

  Methohexital (Brevital) Effect on Electrocorticogram May Be Misleading

  Fiol, M. E., Torres, F., Gates, J. R. & Maxwell, R., Oct 1990, In: Epilepsia. 31, 5, p. 524-528 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Methohexital 100%
  • General Anesthesia 2%
  • Seizures 1%
  23 Scopus citations
• 1988

  Ictus emeticus and the insular cortex

  Fiol, M. E., Leppik, I. E., Mireles, R. & Maxwell, R., 1988, In: Epilepsy Research. 2, 2, p. 127-131 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Cerebral Cortex 100%
  • Vomiting 92%
  • Pharynx 73%
  • Fear 62%
  • Seizures 55%
  54 Scopus citations
• 1986

  Eating Epilepsy: EEG and Clinical Study

  Fiol, M. E., Leppik, I. E. & Pretzel, K., Aug 1986, In: Epilepsia. 27, 4, p. 441-445 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Electroencephalography 100%
  • Epilepsy 99%
  • Eating 89%
  • Clinical Studies 81%
  • Seizures 68%
  22 Scopus citations
• 1983

  Clinical evaluation of a depth electroencephalography electrode

  Maxwell, R. E., Gates, J. R., Fiol, M. E., Johnson, M. J., Yap, J. C., Leppik, I. E. & Gumnit, R. J., 1983, In: Unknown Journal. 12, 5, p. 561-564 4 p.

  Research output: Contribution to journal › Article › peer-review

  • Electroencephalography 100%
  • Electrode 79%
  • electroencephalography 78%
  • Electrodes 55%
  • Evaluation 46%
  9 Scopus citations

• Epilepsy and oral contraceptives. A therapeutic dilemma

  Fiol, M. E., Leppik, I. E. & Gates, J. R., 1983, In: Minnesota medicine. 66, 9, p. 551-552 2 p.

  Research output: Contribution to journal › Review article › peer-review

  • Oral Contraceptives 100%
  • Epilepsy 78%
  • Seizures 48%
  • Contraceptive Agents 32%
  • Guidelines 20%
  4 Scopus citations
• 1975

  Dystrophia myotonica in a 47, XXY male

  Fiol, M. E., Daly, R. F. & Osborne, R. H., May 1975, In: Neurology. 25, 5, p. 472-476 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Klinefelter Syndrome 100%
  • Myotonic Dystrophy 93%
  • Aneuploidy 38%
  • Point Mutation 35%
  6 Scopus citations