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Letter
2020

The “Epileptic Heart” and the “cardiovascular continuum”

Fialho, G. L., Wolf, P., Walz, R. & Lin, K., Jul 2020, In : Epilepsy and Behavior. 108, 107044.

Research output: Contribution to journalLetterResearchpeer-review

2019

First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

Larsen, K. B., Bayat, A., Møller, R. S., Maroun, L. L. & Lund, E. L., Dec 2019, In : Neuropathology and Applied Neurobiology. 45, 7, p. 732-735

Research output: Contribution to journalLetterResearchpeer-review

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2018

Mesial temporal lobe epilepsy with hippocampal sclerosis is infrequently associated with neuronal autoantibodies

Nóbrega-Jr, A. W., Gregory, C. P., Schlindwein-Zanini, R., Neves, F. D. S., Wolf, P., Walz, R., Steindel, M. & Lin, K., Sep 2018, In : Epilepsia. 59, 9, p. e152-e156

Research output: Contribution to journalLetterResearchpeer-review

2015

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Syrbe, S., Hedrich, U. B. S., Riesch, E., Djémié, T., Müller, S., Møller, R. S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H. S., Arslan, M., Serratosa, J. M., Nothnagel, M., May, P., Krause, R., Löffler, H., Detert, K., Dorn, T., Vogt, H., Krämer, G. & 30 others, Schöls, L., Mullis, P. E., Linnankivi, T., Lehesjoki, A-E., Sterbova, K., Craiu, D. C., Hoffman-Zacharska, D., Korff, C. M., Weber, Y. G., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M. K., Merkenschlager, A., Kiess, W., Gonzalez, M., Züchner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schüle, R., Sisodiya, S. M., Weckhuysen, S., Lerche, H., Lemke, J. R. & EuroEPINOMICS RES Consortium, 2015, In : Nature Genetics. 47, 4, p. 393–399

Research output: Contribution to journalLetterResearchpeer-review

Diagnostic yield of five minutes compared to three minutes hyperventilation during electroencephalography

Craciun, L., Varga, E. T., Mindruta, I., Meritam, P., Horváth, Z., Terney, D., Gardella, E., Alving, J., Vécsei, L. & Beniczky, S., 2015, In : Seizure. 30, p. 90-92

Research output: Contribution to journalLetterResearchpeer-review

Mutations in KCNT1 cause a spectrum of focal epilepsies

Møller, R. S., Heron, S. E., Larsen, L. H. G., Lim, C. X., Ricos, M. G., Bayly, M. A., van Kempen, M. J. A., Klinkenberg, S., Andrews, I., Kelley, K., Ronen, G. M., Callen, D., McMahon, J. M., Yendle, S. C., Carvill, G. L., Mefford, H. C., Nabbout, R., Poduri, A., Striano, P., Baglietto, M. G. & 11 others, Zara, F., Smith, N. J., Pridmore, C., Gardella, E., Nikanorova, M., Dahl, H. A., Gellert, P., Scheffer, I. E., Gunning, B., Kragh-Olsen, B. & Dibbens, L. M., Sep 2015, In : Epilepsia. 56, 9, p. e114-20

Research output: Contribution to journalLetterResearchpeer-review

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibæk, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., Striano, P., Zara, F., Kleiss, R., Simpson, M., Muhle, H., Nikanorova, M., Jepsen, B., Tommerup, N. & 8 others, Stephani, U., Guerrini, R., Duno, M., Hjalgrim, H., Pal, D., Helbig, I., Møller, R. S. & MAE working group of the EuroEPINOMICS RES Consortium, Dec 2015, In : Epilepsia. 56, 12, p. e203-8

Research output: Contribution to journalLetterResearchpeer-review

2014

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, C., Dalle, C., Rastetter, A., Striano, P., de Kovel, C. G. F., Nabbout, R., Cancès, C., Ville, D., Brilstra, E. H., Gobbi, G., Raffo, E., Bouteiller, D., Marie, Y., Trouillard, O., Robbiano, A., Keren, B., Agher, D., Roze, E., Lesage, S., Nicolas, A. & 19 others, Brice, A., Baulac, M., Vogt, C., El Hajj, N., Schneider, E., Suls, A., Weckhuysen, S., Gormley, P., Lehesjoki, A-E., De Jonghe, P., Helbig, I., Baulac, S., Zara, F., Koeleman, B. P. C., Haaf, T., LeGuern, E., Depienne, C., EuroEPINOMICS RES Consortium & Møller, R. S., Jun 2014, In : Nature Genetics. 46, 6, p. 640-5

Research output: Contribution to journalLetterResearchpeer-review

2011

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

Klitten, L. L., Møller, R. S., Nikanorova, M., Silahtaroglu, A., Hjalgrim, H. & Tommerup, N., 2011, In : Epilepsia. 52, 12, p. e190-e193

Research output: Contribution to journalLetterResearchpeer-review

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy

Klitten, L. L., Møller, R. S., Ravn, K. J. T., Hjalgrim, H. & Tommerup, N., 2011, In : European Journal of Human Genetics. 19, 1, p. 1-2

Research output: Contribution to journalLetterResearchpeer-review