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Publikationer 2002 2019

Filtrer
Review
2019

Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases

Stülpnagel, C. V., Hartlieb, T., Borggräfe, I., Coppola, A., Gennaro, E., Eschermann, K., Kiwull, L., Kluger, F., Krois, I., Møller, R. S., Rössler, F., Santulli, L., Schwermer, C., Wallacher-Scholz, B., Zara, F., Wolf, P. & Kluger, G., feb. 2019, I : Seizure. 65, s. 131-137

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Reflex Epilepsy
Mastication
Pediatrics
Mutation
Eyelids
131 Downloads (Pure)

Clinician's guide to genes associated with Rett-like phenotypes: Investigation of a Danish cohort and review of the literature

Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., feb. 2019, I : Clinical Genetics. 95, 2, s. 221-230

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Åben adgang
Fil
Rett Syndrome
De Lange Syndrome
Genetic Heterogeneity

From next generation sequencing to targeted treatment of non-acquired epilepsies

Møller, R. S., Hammer, T. B., Rubboli, G., Lemke, J. R. & Johannesen, K. M., mar. 2019, I : Expert Review of Molecular Diagnostics. 19, 3, s. 217-228

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Exome
Precision Medicine
Genetic Heterogeneity
Expert Testimony
Routine Diagnostic Tests

Spectrum of GABAA receptor variants in epilepsy

Maljevic, S., Møller, R. S., Reid, C. A., Pérez-Palma, E., Lal, D., May, P. & Lerche, H., apr. 2019, I : Current Opinion in Neurology. 32, 2, s. 183–190

Publikation: Bidrag til tidsskriftReviewForskningpeer review

GABA-A Receptors
Rolandic Epilepsy
Pedigree
Pharmaceutical Preparations
2018
61 Downloads (Pure)

Progress in Understanding and Treating SCN2A-Mediated Disorders

Sanders, S. J., Campbell, A. J., Cottrell, J. R., Moller, R. S., Wagner, F. F., Auldridge, A. L., Bernier, R. A., Catterall, W. A., Chung, W. K., Empfield, J. R., George, A. L., Hipp, J. F., Khwaja, O., Kiskinis, E., Lal, D., Malhotra, D., Millichap, J. J., Otis, T. S., Petrou, S., Pitt, G. & 5 flere, Schust, L. F., Taylor, C. M., Tjernagel, J., Spiro, J. E. & Bender, K. J., 2018, I : Trends in Neurosciences. 41, 7, s. 442-456

Publikation: Bidrag til tidsskriftReviewForskningpeer review

Åben adgang
Fil
Genetic Association Studies
Neurobiology
Ligands
Autism Spectrum Disorder