Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 6 Similar Profiles
Seizures Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Ketogenic Diet Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Anticonvulsants Medicine & Life Sciences
Diet Medicine & Life Sciences
Hemispherectomy Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences

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Research Output 1976 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. & 87 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., Pal, D., Palotie, A., 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., Amrom, D., Andermann, E., Andermann, F., Bautista, J. F., Bluvstein, J., Cascino, G. D., Consalvo, D., Crumrine, P., Devinsky, O., Fiol, M. E., Fountain, N. B., French, J., Friedman, D., Haas, K., Haut, S. R., Hayward, J., Joshi, S., Kanner, A., Kirsch, H. E., Kossoff, E. H., Kuperman, R., McGuire, S. M., Motika, P. V., Novotny, E. J., Paolicchi, J. M., Parent, J., Park, K., Shellhaas, R. A., 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., 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: Research - peer-reviewArticle

Brain Diseases
Genes
Infantile Spasms
Lennox Gastaut Syndrome
Recessive Genes

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: Research - peer-reviewComment/debate

Medical Genetics
Brain Diseases
Synaptic Transmission
Names
Epilepsy

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: Research - peer-reviewArticle

Case-Control Studies
Epilepsy
Genes
Partial Epilepsy
Generalized Epilepsy

Rasmussen encephalitis tissue transfer program

Kruse, C. A. , Pardo, C. A. , Hartman, A. L. , Jallo, G. , Vining, E. P. G. , Voros, J. , Gaillard, W. D. , Liu, J. , Oluigbo, C. , Malone, S. , Bleasel, A. F. , Dexter, M. , Micati, A. , Velasco, T. R. , MacHado, H. R. , Martino, A. M. , Huang, A. , Wheatley, B. M. , Grant, G. A. , Granata, T. & 34 others Freri, E., Garbelli, R., Koh, S., Nordli, D. R., Campos, A. R., O'Neill, B., Handler, M. H., Chapman, K. E., Wilfong, A. A., Curry, D. J., Yaun, A., Madsen, J. R., Smyth, M. D., Mercer, D., Bingaman, W., Harvey, A. S., Leventer, R. J., Lockhart, P. J., Gillies, G., Pope, K., Giller, C. A., Park, Y. D., Rojiani, A. M., Sharma, S. J., Jenkins, P., Tung, S., Huynh, M. N., Chirwa, T. W., Cepeda, C., Levine, M. S., Chang, J. W., Owens, G. C., Vinters, H. V. & Mathern, G. W. Jun 1 2016 In : Epilepsia. 57, 6, p. 1005-1007 3 p.

Research output: Research - peer-reviewLetter

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: Research - peer-reviewArticle

Periventricular Nodular Heterotopia
Epilepsy
Seizures
Malformations of Cortical Development
Choristoma