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Publikationer 2008 2019

  • 22 Tidsskriftartikel
  • 5 Konferenceabstrakt i tidsskrift
  • 3 Letter
  • 1 Review
Filtrer
Tidsskriftartikel
2019

Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep

Jansen, F. E., Nikanorova, M. & Peltola, M., jun. 2019, I : Epileptic disorders : international epilepsy journal with videotape. 21, S1, s. 76-81

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Cognition
Electroencephalography

Encephalopathy with continuous spike-waves during slow-wave sleep: evolution and prognosis

Caraballo, R., Pavlidis, E., Nikanorova, M. & Loddenkemper, T., jun. 2019, I : Epileptic disorders : international epilepsy journal with videotape. 21, S1, s. 15-21

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Electroencephalography

Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a “pure” model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study

Pavlidis, E., Møller, R. S., Nikanorova, M., Kölmel, M. S., Stendevad, P., Beniczky, S., Tassinari, C. A., Rubboli, G. & Gardella, E., 1. aug. 2019, I : Epilepsy and Behavior. 97, s. 244-252

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Electroencephalography
Homeostasis

Pharmacokinetic variability and clinical use of lacosamide in children and adolescents in Denmark and Norway

Burns, M. L., Nikanorova, M., Baftiu, A., Rasmussen, J. B., Johannessen, S. I. & Landmark, C. J., jun. 2019, I : Therapeutic Drug Monitoring. 41, 3, s. 340-347

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Denmark
Norway
Pharmacokinetics
Serum
Drug Monitoring
2018
48 Downloads (Pure)

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium, aug. 2018, I : Lancet Neurology. 17, 8, s. 699-708

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Fil
Exome
GABA-A Receptors
Case-Control Studies
Odds Ratio
Luxembourg
2017

Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations

Pavlidis, E., Uldall, P., Gøbel Madsen, C., Nikanorova, M., Fabricius, M., Høgenhaven, H., Pisani, F., Møller, R. S., Gardella, E. & Rubboli, G., 2017, I : Epileptic Disorders. 19, 2, s. 226-230

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Electroencephalography
Migraine with Aura
Sclerosis
Eye Movements
Intensive Care Units

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S. & 65 flere, Miranda, M. J., Hempel, M., Brilstra, E., Knoers, N. V., Verbeek, N. E., van Kempen, M. J. A., Braun, K. P. J., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brückner, R., Pietz, J., Golla, G., Jillella, D., Linnet, K. M., Charles, P., Moog, U., Õiglane-Shlik, E., Mantovani, J. F., Park, K., Deprez, M., Lederer, D., Mary, S., Scalais, E., Selim, L., Van Coster, R., Lagae, L., Nikanorova, M., Hjalgrim, H., Korenke, G. C., Trivisano, M., Specchio, N., Ceulemans, B., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., De Jonghe, P., Weckhuysen, S., Lemke, J. R., Krägeloh-Mann, I., Helbig, I., Kluger, G., Lerche, H. & Møller, R. S., 2017, I : Brain. 140, 5, s. 1316–1336

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Genetic Heterogeneity
Mutation
NAV1.2 Voltage-Gated Sodium Channel
Missense Mutation
Age of Onset

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Møller, R. S., Wuttke, T. V., Helbig, I., Marini, C., Johannesen, K. M., Brilstra, E. H., Vaher, U., Borggraefe, I., Talvik, I., Talvik, T., Kluger, G., Francois, L. L., Lesca, G., de Bellescize, J., Blichfeldt, S., Chatron, N., Holert, N., Jacobs, J., Swinkels, M. E. M., Betzler, C. & 22 flere, Syrbe, S., Nikanorova, M., Myers, C. T., Larsen, L. H. G., Vejzovic, S., Pendziwiat, M., von Spiczak, S., Hopkins, S., Dubbs, H., Mang, Y., Mukhin, K., Holthausen, H., van Gassen, K. L., Dahl, H. A., Tommerup, N., Mefford, H. C., Rubboli, G., Guerrini, R., Lemke, J. R., Lerche, H., Muhle, H. & Maljevic, S., 2017, I : Neurology. 88, 5, s. 483-492

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Febrile Seizures
Mutation
Xenopus laevis
Microelectrodes
GABA-A Receptors

Real-world data on rufinamide treatment in patients with Lennox–Gastaut syndrome: Results from a European noninterventional registry study

Nikanorova, M., Brandt, C., Auvin, S. & McMurray, R., 2017, I : Epilepsy and Behavior. 76, s. 63-70

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Registries
rufinamide
Safety
Multicenter Studies
2016

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T., McMahon, J. M., Schneider, A. L., Petrovski, S., Allen, A. S., Carvill, G. L., Zemel, M., Saykally, J. E., LaCroix, A. J., Heinzen, E. L., Hollingsworth, G., Nikanorova, M., Corbett, M., Gecz, J., Coman, D., Freeman, J. L., Calvert, S., Gill, D., Carney, P., Lerman-Sagie, T. & 26 flere, Sampaio, H., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Johnson, M. R., Kuzniecky, R., Marson, A. G., O’Brien, T. J., Ottman, R., Petrou, S., Poduri, A., Pickrell, W. O., Chung, S-K., Rees, M. I., Sherr, E., Sadleir, L. G., Goldstein, D. B., Lowenstein, D. H., Møller, R. S., Berkovic, S. F., Scheffer, I. E., Mefford, H. C. & Epi4K Consortium, 2016, I : American Journal of Human Genetics. 99, 2, s. 287-298

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutation
Exome
Mosaicism
Genetic Heterogeneity
Counseling

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P. & 12 flere, Nikanorova, M., Olofsson, K., Jepsen, B., Marjanovic, D., Al-Zehhawi, L. I. K., Peñalva, S. J., Krag-Olsen, B., Brusgaard, K., Hjalgrim, H., Rubboli, G., Pal, D. K. & Dahl, H. A., 2016, I : Molecular Syndromology. 7, 4, s. 210-219

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Benign Neonatal Epilepsy
Genetic Heterogeneity
Gene Targeting
Computational Biology
Age of Onset

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Stamberger, H., Nikanorova, M., Willemsen, M. H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., Benoit, V., Budetta, M., Caliebe, A., Cantalupo, G., Capovilla, G., Casara, G., Courage, C., Deprez, M., Destrée, A., Dilena, R., Erasmus, C. E., Fannemel, M., Fjær, R. & 37 flere, Giordano, L., Helbig, K. L., Heyne, H. O., Klepper, J., Kluger, G. J., Lederer, D., Lodi, M., Maier, O., Merkenschlager, A., Michelberger, N., Minetti, C., Muhle, H., Phalin, J., Ramsey, K., Romeo, A., Schallner, J., Schanze, I., Shinawi, M., Sleegers, K., Sterbova, K., Syrbe, S., Traverso, M., Tzschach, A., Uldall, P., Van Coster, R., Verhelst, H., Viri, M., Winter, S., Wolff, M., Zenker, M., Zoccante, L., De Jonghe, P., Helbig, I., Striano, P., Lemke, J. R., Møller, R. S. & Weckhuysen, S., 8. mar. 2016, I : Neurology. 86, 10, s. 954-962

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutation
Movement Disorders
Nervous System
Comorbidity
2015

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences

Biró, A., Stephani, U., Tarallo, T., Bast, T., Schlachter, K., Fleger, M., Kurlemann, G., Fiedler, B., Leiz, S., Nikanorova, M., Wolff, M., Müller, A., Selch, C., Staudt, M. & Kluger, G., 2015, I : Neuropediatrics. 46, 2, s. 110-115

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Pediatrics
Population
Physicians
perampanel
Surveys and Questionnaires

Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood

Pavlidis, E., Rubboli, G., Nikanorova, M., Kölmel, M. S. & Gardella, E., 30. sep. 2015, I : Functional Neurology. 30, 2, s. 139-141

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Åben adgang
Electroencephalography
Rolandic Epilepsy
Neuropsychological Tests
Phenytoin
oxcarbazepine

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., Mecarelli, O., Smith, R. L., Leventer, R. J., Møller, R. S., Nikanorova, M., Dimova, P., Jordanova, A., Petrou, S., Helbig, I., Striano, P. & 5 flere, Weckhuysen, S., Berkovic, S. F., Scheffer, I. E., Mefford, H. C. & EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, 2015, I : American Journal of Human Genetics. 96, 5, s. 808-815

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Mutation
2014

Efficacy of verapamil as an adjunctive treatment in children with drug-resistant epilepsy: A pilot study

Nicita, F., Spalice, A., Papetti, L., Nikanorova, M., Iannetti, P. & Parisi, P., 2014, I : Seizure - European Journal of Epilepsy. 23, 1, s. 36-40

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Verapamil
Drug Resistant Epilepsy

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

Carvill, G. L., Weckhuysen, S., McMahon, J. M., Hartmann, C., Moller, R. S., Hjalgrim, H., Cook, J., Geraghty, E., O'Roak, B. J., Petrou, S., Clarke, A., Gill, D., Sadleir, L. G., Muhle, H., von Spiczak, S., Nikanorova, M., Hodgson, B. L., Gazina, E. V., Suls, A., Shendure, J. & 6 flere, Dibbens, L. M., De Jonghe, P., Helbig, I., Berkovic, S. F., Scheffer, I. E. & Mefford, H. C., 2014, I : Neurology. 82, 14, s. 1245-1253 9 s.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

2011

A prospective study of levetiracetam efficacy in epileptic syndromes with continuous spikes-waves during slow sleep

Atkins, M. & Nikanorova, M., 2011, I : Publishers Weekly. 20, 8, s. 635-639

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Electroencephalography
Prospective Studies

Epilepsy with myoclonic absences - favourable response to add-on rufinamide treatment in 3 cases

Häusler, M., Kluger, G. & Nikanorova, M., 2011, I : Neuropediatrics. 42, 1, s. 28-29

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Orphan Drug Production
rufinamide
Lennox Gastaut Syndrome

Transcranial direct current stimulation in refractory continuous spikes and waves during slow sleep: a controlled study

Varga, E. T., Terney, D., Atkins, M. D., Nikanorova, M., Jeppesen, D. S., Uldall, P., Hjalgrim, H. & Beniczky, S., 2011, I : Epilepsy Research. 97, 1-2, s. 142-5 4 s.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Transcranial Direct Current Stimulation
2010

Lennox-Gastaut syndrome in adulthood: clinical and EEG features

Ferlazzo, E., Nikanorova, M., Nikaronova, M., Italiano, D., Bureau, M., Dravet, C., Calarese, T., Viallat, D., Kölmel, M., Bramanti, P., De Santi, L. & Genton, P., maj 2010, I : Epilepsy Research and Treatment. 89, 2-3, s. 271-7 7 s.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Electroencephalography
Retrospective Studies
Lennox Gastaut Syndrome
2008

Mowat-Wilson syndrome: an underdiagnosed syndrome?

Engenheiro, E., Møller, R. S., Pinto, M., Soares, G., Nikanorova, M., Carreira, I. M., Ullmann, R., Tommerup, N. & Tümer, Z., jun. 2008, I : Clinical Genetics. 73, 6, s. 579-84 6 s.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Multiple Abnormalities
Mutation