Research Output

Filter
Conference abstract in journal
2019

The Impact of Severe Paediatric Epilepsy on Experienced Stressors, Depression and PTSD in Caregivers

Jakobsen, A. V., 3. Jun 2019, In : European Journal of Psychotraumatology. 10, Suppl. 1

Research output: Contribution to journalConference abstract in journalResearchpeer-review

2018

Defining QARS: Catastrophic Epilepsy, Microcephaly And Encephalopathy

Johannesen, K. M., Toulouse, J., Mitter, D., Poulat, A. -L., Ville, D., Brilstra, E., Geleijns, K. P., Born, A. P., Gardella, E., Rubboli, G., Lesca, G., Lemke, J. & Moller, R. S., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S215 1 p.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

ESES-like EEG Pattern in KCNB1-Related Encephalopathy

Rubboli, G., Desai, S., Naidu, S., Srivastava, S., Helbig, I., Pendziwiat, M., Polster, T., Koeleman, B., Moller, R. S. & Gardella, E., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S312-S313

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Familial Early Onset Eyelid Myoclonia with Absences Associated with RORB Mutation

Magaudda, A., Gardella, E., Fenger, C. D., Reale, C., Hjalgrim, H., Tassinari, C. A. & Moller R, S., 1. Dec 2018, In : Epilepsia. 59, Suppl., p. S316 1 p.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Identification and Characterization of Variant Intolerant Sites across Human Protein 3-Dimensional Structures

Iqbal, S., Jespersen, J. B., Perez-Palma, E., Mayo, P., Heyne, H., Lage, K., Moller, R. S., Wagner, F. F., Daly, M., Campbell, A. J. & Lal, D., 2. Feb 2018, In : Biophysical Journal. 114, 3, Suppl. 1, p. 664A 1 p.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Open Access

Identification of Structural Variants in Previously Unsolved Epilepsy Cases using Linked-Reads Sequencing Technique

Fenger, C. D., Hao, Q., Larsen, L. H. G., Moller, R. S., Hjalgrim, H., Brusgaard, K. & Dahl, H. A., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S317 1 p.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

KIAA2022-Further Elucidating the Phenotype

Hammer, T. B., Lange, I. D., Ben-Zeev, B., Bertelsen, B., Bouman, A., Brilstra, E. H., de Geus, C., Edery, P., Granild-Jensen, J. B., Heimer, G., Kharytonov, V., Koolen, D., Korff, C. M., Lesca, G., Ranza, E., Schelhaas, H. J., Shah, K., Sisodiya, S., Stuurman, K., Verbeek, N. & 4 others, Verhoeven, J. S., Zarate, Y., Koeleman, B. P. C. & Moller, R. S., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S218-S219

Research output: Contribution to journalConference abstract in journalResearchpeer-review

PIGT-CDG, A Disorder of Glycosylphosphatidylinositol Anchors: Description of Six Novel Patients and Expansion of Clinical Characteristics

Bayat, A., Knaus, A., Juul, A. W., Lascelles, K., Pendziwiat, M., Charzewska, A., Obersztyn, E., Hoffman-Zacharska, D., Larsen, L., Hjalgrim, H., Pal, D., Horn, D., Krawitz, P., Weber, Y. & Helbig, I., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S109-S110

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Risk Factors for Early Mortality in SCN8A Related Epilepsy

Gardella, E., Johannsen, K., Howell, K., Smith, D. M., Helbig, I., Scheffer, I. E., Moller, S. R. & Rubboli, G., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S46-S47

Research output: Contribution to journalConference abstract in journalResearchpeer-review

The Diagnostic Significance of Long-Term EEG Recording for the Diagnosis/Follow-Up of ESES/CSWS

Terney, D., Khinchi, S. M. P., Nikanorova, M., Olofsson, K., Moller, R. S., Rubboli, G., Beniczky, S. & Gardella, E., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S69 1 p.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

The Impact of Precision Medicine in Genetic Epilepsies: Where We Are?

Balestrini, S., Marini, C., Guerrini, R., Rosati, A., Moller, R. S., Striano, P., Weber, Y. G. & Sisodiya, S., 1. Dec 2018, In : Epilepsia. 59, Suppl. 3, p. S118-S119

Research output: Contribution to journalConference abstract in journalResearchpeer-review

2015

Distinctive electro-clinical features of epilepsy in severe early onset SCN8A encephalopathy

Gardella, E., Larsen, J., Wolff, M., Schmiedel, G., Kirkpatrick, M., Barisic, N., Depienne, C., Troncoso, M., Jepsen, B., Nikanorova, M., Troncoso, L., Bevot, A., Hjalgrim, H., Beniczky, S. & Moller, R. S., 2015, In : Epilepsy Currents. 15, p. 53 1 p.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Genetic Testing in Adults with Intellectual Disability and Epilepsy

Larsen, L. H. G., Riesch, E., Marjanovic, D., Biskup, S., Klitten, L. L., Dorn, T., Brusgaard, K., Hjalgrim, H., Moller, R. S. & Lemke, J., 2015, In : Epilepsia. 56, S1, p. 76 1 p., p0276.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Open Access

Stxbp1: Clinical and Genetic Description of 39 New Patients with an Stxbp1 Mutation and Review of Literature

Stamberger, H., Nikanorova, M., Willemsen, M., Fjaer, R., Ramsey, K., Viri, M., Sterbova, K., Wolf, M., Verhelst, H., Benkel, I., Fannemel, M., Muhle, H., Casara, G., Van Coster, R., Angriman, M., Lederer, D., De Jonghe, P., Striano, P., Lemke, J., Moller, R. S. & 1 others, Weckhuysen, S., 2015, In : Epilepsia. 56, S1, p. 220-220 1 p., p0899.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Open Access

Targeted Next Generation Sequencing as a Diagnostic Tool in 163 Patients with Epileptic Encephalopathies

Dahl, H. A., Larsen, L. H. G., Olofsson, K., Miranda, M., Nielsen, J. E. K., Lavard, L., Linnet, K., Uldall, P., Talvik, T., Talvik, I., Frangu, M., Born, P., Gellert, P., Nikanorova, M., Jepsen, B., Marjanovic, D., Kragh-Olsen, B., Mosbech, M. B., Hao, Q., Brusgaard, K. & 2 others, Hjalgrim, H. & Moller, R. S., 2015, In : Epilepsia. 56, S1, p. 72-73 p0263.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Open Access

The Phenotypic Spectrum Associated with Gabrb3 Mutations: From Febrile Seizures to Severe Epileptic Encephalopathies

Moller, R. S., Nikanorova, M., Brilstra, E. H., Vaher, U., Talvik, I., Talvik, T., Kluger, G., Lemke, J. R., Myers, C., Larsen, L. H. G., Pendziwiat, M., Mang, Y., van Gassen, K. L., Dahl, H. A., Rubboli, G., Tommerup, N., Helbig, I., Mefford, H. C. & Muhle, H., 2015, In : Epilepsia. 56, S1, p. 19 1 p., 0052.

Research output: Contribution to journalConference abstract in journalCommissionedpeer-review

Open Access
2014

Distinctive interictal and ictal video-eeg features of epilepsy in scn8A encephalopathy

Gardella, E., Larsen, J., Wolff, M., Schmiedel, G., Kirkpatrick, M., Barisic, N., Depienne, C., Troncoso, M., Jepsen, B., Nikanorova, M., Troncoso, L., Bevot, A., Hjalgrim, H., Beniczky, S. & Moller, R. S., 2014, In : Epilepsia. 55, 2 (Supplement), p. 201-202

Research output: Contribution to journalConference abstract in journalResearchpeer-review