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Publikationer 2002 2019

Filtrer
Letter
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., 25. apr. 2019, I : Neuropathology and Applied Neurobiology.

Publikation: Bidrag til tidsskriftLetterForskningpeer 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 flere, 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, I : Nature Genetics. 47, 4, s. 393–399

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Mutation
Kv1.2 Potassium Channel
Neurons

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 flere, 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, I : Epilepsia. 56, 9, s. e114-20

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Mutation
Frontal Lobe Epilepsy
Penetrance
Sudden Death

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 flere, 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, I : Epilepsia. 56, 12, s. e203-8

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Absence Epilepsy
Mutation
Movement Disorders
Mutation Rate
Population
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 flere, 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, I : Nature Genetics. 46, 6, s. 640-5

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Mutation
Exome
Missense Mutation
Amino Acid Substitution
Point Mutation
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, I : Epilepsia. 52, 12, s. e190-e193

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Mutation
Proteins
aspartic acid receptor

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, I : European Journal of Human Genetics. 19, 1, s. 1-2

Publikation: Bidrag til tidsskriftLetterForskningpeer review