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Publikationer 2002 2019

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Tidsskriftartikel
2019

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

Sher, M., Farooq, M., Abdullah, U., Ali, Z., Faryal, S., Zakaria, M., Ullah, F., Bukhari, H., Møller, R. S., Tommerup, N. & Baig, S. M., 2. sep. 2019, I : International Journal of Neuroscience. 129, 9, s. 890-895

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Neuronal Ceroid-Lipofuscinoses
Mutation
Proteins
Amino Acids
Live Birth

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

the EuroEPINOMICS-RES Consortium & the GRIN Consortium, 6. jun. 2019, I : American Journal of Human Genetics. 104, 6, s. 1060-1072

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Clathrin
Endocytosis
Exome
Entropy
Membranes
56 Downloads (Pure)

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

C4RCD Research Group & AR working group of the EuroEPINOMICS RES Consortium, 12. feb. 2019, I : Nature Communications. 10, 15 s., 708.

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Valine-tRNA Ligase
Amino Acyl-tRNA Synthetases
Microcephaly
Zebrafish
mutations

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K. M., Griffiths, L. R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M. J., Møller, R. S., Neubauer, B., Smith, R. A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H. & 1 flere, Fazeli, W., 1. maj 2019, I : European Journal of Paediatric Neurology. 23, 3, s. 438-447

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Acetazolamide
Sleep Deprivation
Nervous System Diseases
Craniocerebral Trauma
54 Downloads (Pure)

Clinical spectrum of STX1B-related epileptic disorders

Wolking, S., May, P., Mei, D., Møller, R. S., Balestrini, S., Helbig, K. L., Altuzarra, C. D., Chatron, N., Kaiwar, C., Stöhr, K., Widdess-Walsh, P., Mendelsohn, B. A., Numis, A., Cilio, M. R., Van Paesschen, W., Svendsen, L. L., Oates, S., Hughes, E., Goyal, S., Brown, K. & 31 flere, Sifuentes Saenz, M., Dorn, T., Muhle, H., Pagnamenta, A. T., Vavoulis, D. V., Knight, S. J. L., Taylor, J. C., Canevini, M. P., Darra, F., Gavrilova, R. H., Powis, Z., Tang, S., Marquetand, J., Armstrong, M., McHale, D., Klee, E. W., Kluger, G. J., Lowenstein, D. H., Weckhuysen, S., Pal, D. K., Helbig, I., Guerrini, R., Thomas, R. H., Rees, M. I., Lesca, G., Sisodiya, S. M., Weber, Y. G., Lal, D., Marini, C., Lerche, H. & Schubert, J., 12. mar. 2019, I : Neurology. 92, 11, s. e1238-e1249

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Febrile Seizures
SNARE Proteins
Genetic Association Studies
Computer Simulation
Virulence
18 Downloads (Pure)

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., Richetin, S., Pain, A., Geneviève, D., Kini, U., Le Caignec, C., Lespinasse, J., Skytte, A. B., Isidor, B., Zweier, C., Caberg, J. H. & 8 flere, Delrue, M. A., Møller, R. S., Bojesen, A., Hjalgrim, H., Brasch-Andersen, C., Lemyre, E., Ousager, L. B. & Jacquemont, S., okt. 2019, I : Journal of Medical Genetics. 56, 10, s. 701-710

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Case-Control Studies
Genetic Counseling
Statistical Models
Meta-Analysis
Population

Genetic heterogeneity in infantile spasms

EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen, okt. 2019, I : Epilepsy Research. 156, 5 s., 106181.

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Genetic Heterogeneity
Incidence

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

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Electroencephalography
Homeostasis
77 Downloads (Pure)

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M-L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A-L., Brunga, L., Ceulemans, B., Coubes, C. & 66 flere, Cristancho, A. G., Cunningham, F., Dehouck, M-B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M-L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J-M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., apr. 2019, I : Genetics in Medicine. 21, 4, s. 837-849

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Protein Isoforms
X Chromosome Inactivation
Developmental Disabilities
Age of Onset
Sex Characteristics
62 Downloads (Pure)

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

Rubboli, G., Plazzi, G., Picard, F., Nobili, L., Hirsch, E., Chelly, J., Prayson, R. A., Boutonnat, J., Bramerio, M., Kahane, P., Dibbens, L. M., Gardella, E., Baulac, S. & Møller, R. S., feb. 2019, I : Annals of Clinical and Translational Neurology. 6, 2, s. 386-391

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Malformations of Cortical Development
Mutation
Periventricular Nodular Heterotopia

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Liu, Y., Schubert, J., Sonnenberg, L., Helbig, K. L., Hoei-Hansen, C. E., Koko, M., Rannap, M., Lauxmann, S., Huq, M., Schneider, M. C., Johannesen, K. M., Kurlemann, G., Gardella, E., Becker, F., Weber, Y. G., Benda, J., Møller, R. S. & Lerche, H., 1. feb. 2019, I : Brain. 142, 2, s. 376-390

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Mutation
Neuroblastoma
Neurons
Genetic Association Studies
Cultured Cells

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

Schulz, H., Ruppert, A-K., Zara, F., Madia, F., Iacomino, M., S Vari, M., Balagura, G., Minetti, C., Striano, P., Bianchi, A., Marini, C., Guerrini, R., Weber, Y. G., Becker, F., Lerche, H., Kapser, C., Schankin, C. J., Kunz, W. S., Møller, R. S., Oliver, K. L. & 11 flere, Bellows, S. T., Mullen, S. A., Berkovic, S. F., Scheffer, I. E., Caglayan, H., Ozbek, U., Hoffmann, P., Schramm, S., Tsortouktzidis, D., Becker, A. J. & Sander, T., maj 2019, I : Epilepsia. 60, 5, s. e31-e36

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Juvenile Myoclonic Epilepsy
Proteins
Quantitative Trait Loci
Single Nucleotide Polymorphism
Absence Epilepsy

Parental mosaicism in epilepsies due to alleged de novo variants

Møller, R. S., Liebmann, N., Larsen, L. H. G., Stiller, M., Hentschel, J., Kako, N., Abdin, D., Di Donato, N., Pal, D. K., Zacher, P., Syrbe, S., Dahl, H. A. & Lemke, J. R., 1. jun. 2019, I : Epilepsia. 60, 6, s. e63-e66

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Mosaicism
Parents
Genetic Counseling
DNA

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

the DDD Study Group, okt. 2019, I : Genetics in Medicine. 21, 10, s. 2216-2223

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Glycosylphosphatidylinositols
Muscle Hypotonia
69 Downloads (Pure)

The landscape of epilepsy-related GATOR1 variants

Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 flere, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d’Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., 1. feb. 2019, I : Genetics in Medicine. 21, 2, s. 398-408

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Sudden Death
Malformations of Cortical Development
Age of Onset
Comorbidity
Guidelines

The spectrum of intermediate SCN8A-related epilepsy

Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A. E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 flere, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G. & Møller, R. S., maj 2019, I : Epilepsia. 60, 5, s. 830-844

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Muscle Hypotonia
Movement Disorders
Electroencephalography
Cognitive Dysfunction

Treatment Responsiveness in KCNT1-Related Epilepsy

Fitzgerald, M. P., Fiannacca, M., Smith, D. M., Gertler, T. S., Gunning, B., Syrbe, S., Verbeek, N., Stamberger, H., Weckhuysen, S., Ceulemans, B., Schoonjans, A. S., Rossi, M., Demarquay, G., Lesca, G., Olofsson, K., Koolen, D. A., Hornemann, F., Baulac, S., Rubboli, G., Minks, K. Q. & 5 flere, Lee, B., Helbig, I., Dlugos, D., Møller, R. S. & Bearden, D., jul. 2019, I : Neurotherapeutics. 16, 3, s. 848-857

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Quinidine
NADP
Vigabatrin
Registries

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations

Lesca, G., Møller, R. S., Rudolf, G., Hirsch, E., Hjalgrim, H. & Szepetowski, P., jun. 2019, I : Epileptic disorders : international epilepsy journal with videotape. 21, S1, s. 41-47

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Rolandic Epilepsy
Mutation
Landau-Kleffner Syndrome
Cytogenetics
Language
2018

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Møller, R. S. & EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, 6. dec. 2018, I : American Journal of Human Genetics. 103, 6, s. 1022-1029

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Poisons
Exome
Human Genome
Transcriptome
Research Personnel
90 Downloads (Pure)

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, 22. jun. 2018, I : Science. 360, 6395, 15 s., 8757.

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Genetic Heterogeneity
Genome-Wide Association Study
Nervous System Diseases
Comorbidity
99 Downloads (Pure)

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Knaus, A., Pantel, J. T., Pendziwiat, M., Hajjir, N., Zhao, M., Hsieh, T. C., Schubach, M., Gurovich, Y., Fleischer, N., Jäger, M., Köhler, S., Muhle, H., Korff, C., Møller, R. S., Bayat, A., Calvas, P., Chassaing, N., Warren, H., Skinner, S., Louie, R. & 16 flere, Evers, C., Bohn, M., Christen, H. J., van den Born, M., Obersztyn, E., Charzewska, A., Endziniene, M., Kortüm, F., Brown, N., Robinson, P. N., Schelhaas, H. J., Weber, Y., Helbig, I., Mundlos, S., Horn, D. & Krawitz, P. M., 9. jan. 2018, I : Genome Medicine. 10, 13 s., 3.

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Glycosylphosphatidylinositols
Flow Cytometry
Muscle Hypotonia
Alkaline Phosphatase
Mutation
121 Downloads (Pure)

Defining the phenotypic spectrum of SLC6A1 mutations

Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A. E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M. T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W. H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 30 flere, Chae, J. H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Rubboli, G. & Møller, R. S., 2018, I : Epilepsia. 59, 2, s. 389-402

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Mutation
Language Development Disorders
Electroencephalography
Absence Epilepsy
Valproic Acid
43 Downloads (Pure)

De novo variants in neurodevelopmental disorders with epilepsy

Heyne, H. O., Singh, T., Stamberger, H., Abou Jamra, R., Caglayan, H., Craiu, D., De Jonghe, P., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T., May, P., Muhle, H., Møller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., Tang, S. & 30 flere, Wu, S., Afawi, Z., De Kovel, C., Dimova, P., Djémié, T., Endziniene, M., Hoffman-Zacharska, D., Jähn, J., Korff, C., Lehesjoki, A. E., Marini, C., Müller, S. H., Pal, D., Schwarz, N., Selmer, K., Serratosa, J., Stephani, U., Štěrbová, K., Suls, A., Syrbe, S., Talvik, I., Tang, S., Von Spiczak, S., Zara, F., Poduri, A., Weber, Y. G., Weckhuysen, S., Sisodiya, S. M., Daly, M. J. & Helbig, I., 2018, I : Nature Genetics. 50, 7, s. 1048-1053

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46 Downloads (Pure)

Early mortality in SCN8A-related epilepsies

Johannesen, K. M., Gardella, E., Scheffer, I., Howell, K., Smith, D. M., Helbig, I., Møller, R. S. & Rubboli, G., jul. 2018, I : Epilepsy Research. 143, s. 79-81

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Cause of Death
Lung
81 Downloads (Pure)

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

Møller, R. S. & EPIGEN Consortium;, 23. jan. 2018, I : Neurology. 90, 4, s. e332-e341

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Complement Factor H
Phenytoin
Exanthema
Hypersensitivity
Alternative Complement Pathway
65 Downloads (Pure)

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Hjalgrim, H., Møller, R. S. & The International League Against Epilepsy Consortium on Complex Epilepsies, 10. dec. 2018, I : Nature Communications. 9, 5269.

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epilepsy
genome
loci
Genes
genes
79 Downloads (Pure)

Incorporating epilepsy genetics into clinical practice: A 360°evaluation

Oates, S., Tang, S., Rosch, R., Lear, R., Hughes, E. F., Williams, R. E., Larsen, L. H. G., Hao, Q., Dahl, H. A., Møller, R. S. & Pal, D. K., 2018, I : npj Genomic Medicine. 3, 11 s., 13.

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Genetic Counseling
Diagnostic Services
Genetic Association Studies
Newborn Infant
Population
131 Downloads (Pure)

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Zagaglia, S., Selch, C., Nisevic, J. R., Mei, D., Michalak, Z., Hernandez-Hernandez, L., Krithika, S., Vezyroglou, K., Varadkar, S. M., Pepler, A., Biskup, S., Leão, M., Gärtner, J., Merkenschlager, A., Jaksch, M., Møller, R. S., Gardella, E., Kristiansen, B. S., Hansen, L. K., Vari, M. S. & 29 flere, Helbig, K. L., Desai, S., Smith-Hicks, C. L., Hino-Fukuyo, N., Talvik, T., Laugesaar, R., Ilves, P., Õunap, K., Körber, I., Hartlieb, T., Kudernatsch, M., Winkler, P., Schimmel, M., Hasse, A., Knuf, M., Heinemeyer, J., Makowski, C., Ghedia, S., Subramanian, G. M., Striano, P., Thomas, R. H., Micallef, C., Thom, M., Werring, D. J., Kluger, G. J., Cross, J. H., Guerrini, R., Balestrini, S. & Sisodiya, S. M., 27. nov. 2018, I : Neurology. 91, 22, s. e2078-e2088

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Nervous System
Mutation
Electroencephalography
Genetic Association Studies
Pedigree
35 Downloads (Pure)

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivanovski, I., Djuric, O., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Rosato, S., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Ajmone, P. F., Badura-Stronka, M., Baldo, C., Baldi, M., Bayat, A., Bigoni, S., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G. & 30 flere, Cuturilo, G., De Brasi, D., Devriendt, K., Dinulos, M. B., Hjortshøj, T. D., Epifanio, R., Faravelli, F., Fiumara, A., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Kuburovic, V., Kutkowska-Kazmierczak, A., Lacombe, D., Lo Rizzo, C., Luchetti, A., Malbora, B., Mammi, I., Mari, F., Montorsi, G., Moutton, S., Møller, R. S., Muschke, P., Nielsen, J. E. K., Obersztyn, E., Pantaleoni, C. & Pellicciari, A., 1. sep. 2018, I : Genetics in Medicine. 20, 9, s. 965-975

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Mutation
Natural History
Proteins
Clinical Studies
39 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

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Exome
GABA-A Receptors
Case-Control Studies
Odds Ratio
Luxembourg

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

Yates, T. M., Suri, M., Desurkar, A., Lesca, G., Wallgren-Pettersson, C., Hammer, T. B., Raghavan, A., Poulat, A-L., Møller, R. S., Thuresson, A-C. & Balasubramanian, M., nov. 2018, I : European Journal of Paediatric Neurology. 22, 6, s. 1095-1102

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Congenital Disorders of Glycosylation
Pharmaceutical Preparations
75 Downloads (Pure)

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Chatron, N., Møller, R. S., Champaigne, N. L., Schneider, A. L., Kuechler, A., Labalme, A., Simonet, T., Baggett, L., Bardel, C., Kamsteeg, E. J., Pfundt, R., Romano, C., Aronsson, J., Alberti, A., Vinci, M., Miranda, M. J., Lacroix, A., Marjanovic, D., des Portes, V., Edery, P. & 7 flere, Wieczorek, D., Gardella, E., Scheffer, I. E., Mefford, H., Sanlaville, D., Carvill, G. L. & Lesca, G., 2018, I : Annals of Neurology. 83, 5, s. 926-934

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Exome
Absence Epilepsy
Valproic Acid
Dendrites
Glutamine

The phenotype of SCN8A developmental and epileptic encephalopathy

Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., Rubboli, G. & 8 flere, Veggiotti, P., Beniczky, S., Wolff, M., Helbig, I., Vigevano, F., Scheffer, I. E., Guerrini, R. & Møller, R. S., 18. sep. 2018, I : Neurology. 91, 12, s. e1112-e1124

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Electroencephalography
Cortical Blindness
Sialorrhea
Optic Atrophy
Movement Disorders
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

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Electroencephalography
Migraine with Aura
Sclerosis
Eye Movements
Intensive Care Units

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Hjalgrim, H., Møller, R. S., Epi4K Consortium, EuroEPINOMICS RES Consortium & Epilepsy Phenome Genome Project, 2017, I : European Journal of Human Genetics. 25, s. 894-899

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Population
Proteins
Lennox Gastaut Syndrome

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

EuroEPINOMICS RES Consortium Autosomal Recessive working group & Møller, R. S., 2017, I : American Journal of Human Genetics. 100, 4, s. 676-688

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Ubiquitin
Microcephaly
Proteins
Muscle Hypotonia
Chymotrypsin
88 Downloads (Pure)

Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy

Berghuis, B., van der Palen, J., de Haan, G-J., Lindhout, D., Koeleman, B. P. C., Sander, J. W., EpiPGX Consortium & Møller, R. S., 2017, I : Epilepsia. 58, 7, s. 1227-1233

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Hyponatremia
oxcarbazepine
Pharmaceutical Preparations
Serum
73 Downloads (Pure)

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., Gorman, K., King, M. D., Allen, N. M., Conroy, J., Ben Zeev, B., Tzadok, M., Korff, C., Dubois, F., Ramsey, K., Narayanan, V. & 23 flere, Serratosa, J. M., Giraldez, B. G., Helbig, I., Marsh, E., O'Brien, M., Bergqvist, C. A., Binelli, A., Porter, B., Zaeyen, E., Horovitz, D. D., Wolff, M., Marjanovic, D., Caglayan, H. S., Arslan, M., Pena, S. D. J., Sisodiya, S. M., Balestrini, S., Syrbe, S., Veggiotti, P., Lemke, J. R., Møller, R. S., Lerche, H. & Rubboli, G., 2017, I : Brain. 140, 9, s. 2337-2354

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Genetic Association Studies
Mutation
Microelectrodes
Missense Mutation
Oocytes

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M. & 24 flere, Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 1. sep. 2017, I : Brain. 140, 9, s. 2322-2336

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Mutation
Fibroblasts
Amino Acids
Accidental Falls
Genetic Techniques
58 Downloads (Pure)

DNM1 encephalopathy: A new disease of vesicle fission

Epi4K Consortium & EuroEPINOMICSRES NLES Working Group, 25. jul. 2017, I : Neurology. 89, 4, s. 385-394

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Dynamin I
Mutation
Muscle Hypotonia
GTP Phosphohydrolases
Genetic Association Studies

Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs

von Stülpnagel, C., Ensslen, M., Møller, R. S., Pal, D. K., Masnada, S., Veggiotti, P., Piazza, E., Dreesmann, M., Hartlieb, T., Herberhold, T., Hughes, A. E., Koch, M., Kutzer, C., Hörtnagel, K., Nitanda, J., Pohl, M., Rostasy, K., Haack, T. B., Stöhr, K., Kluger, G. & 1 flere, Borggraefe, I., 2017, I : European Journal of Paediatric Neurology. 21, 3, s. 530–541

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Mutation
Medical Genetics
Electroencephalography
Retrospective Studies
Guidelines

Filadelfia, Danish Epilepsy Center, Dianalund, Denmark

Hjalgrim, H., Nederland, A., Madsen, C., Birk, S., Madsen, S. R., Olofsson, K., Brandt, C. E., Beniczky, S., Rasmussen, J. B., Boserup, L., Lyngsø, L. S., Vilhelmsen, L. L., Sand, E., Kjær, G., Nielsen, K. P., Olsen, J. T., Møller, R. S. & Jeppesen, J. O. S., 2017, I : Epilepsy & Behavior. 76, Suppl., s. S4-S8

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95 Downloads (Pure)

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

EuroEPINOMICS RES Consortium & DDD Study, apr. 2017, I : Human Genetics. 136, 4, s. 463-479

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Microcephaly
Corpus Callosum
Mutation
Penetrance
Genetic Association Studies

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

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Genetic Heterogeneity
Mutation
NAV1.2 Voltage-Gated Sodium Channel
Missense Mutation
Age of Onset
87 Downloads (Pure)

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer, K., Yuan, H., Schütz, H., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H. O., Helbig, K. L., Tang, S., Willing, M. C., Tinkle, B. T., Adams, D. J., Depienne, C., Keren, B., Mignot, C., Frengen, E., Strømme, P., Biskup, S., Döcker, D. & 55 flere, Strom, T. M., Mefford, H. C., Myers, C. T., Muir, A. M., LaCroix, A. J., Sadleir, L. G., Scheffer, I. E., Brilstra, E., van Haelst, M. M., van der Smagt, J. J., Bok, L. A., Møller, R. S., Jensen, U. B., Millichap, J. J., Berg, A. T., Goldberg, E. M., De Bie, I., Fox, S., Major, P., Jones, J. R., Zackai, E. H., Abou Jamra, R., Rolfs, A., Leventer, R. J., Lawson, J. A., Roscioli, T., Jansen, F. E., Ranza, E., Korff, C. M., Lehesjoki, A-E., Courage, C., Linnankivi, T., Smith, D. R., Stanley, C., Mintz, M., McKnight, D., Decker, A., Tan, W-H., Tarnopolsky, M. A., Brady, L. I., Wolff, M., Dondit, L., Pedro, H. F., Parisotto, S. E., Jones, K. L., Patel, A. D., Franz, D. N., Vanzo, R., Marco, E., Ranells, J. D., Di Donato, N., Dobyns, W. B., Laube, B., Traynelis, S. F. & Lemke, J. R., jul. 2017, I : Journal of Medical Genetics. 54, 7, s. 460-470

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Fil
Cluster Analysis
Memantine
Malformations of Cortical Development
Movement Disorders
Precision Medicine

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

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

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties

Oliver, K. L., Franceschetti, S., Milligan, C. J., Muona, M., Mandelstam, S. A., Canafoglia, L., Boguszewska-Chachulska, A. M., Korczyn, A. D., Bisulli, F., Di Bonaventura, C., Ragona, F., Michelucci, R., Ben-Zeev, B., Straussberg, R., Panzica, F., Massano, J., Friedman, D., Crespel, A., Engelsen, B. A., Andermann, F. & 20 flere, Andermann, E., Spodar, K., Lasek-Bal, A., Riguzzi, P., Pasini, E., Tinuper, P., Licchetta, L., Gardella, E., Lindenau, M., Wulf, A., Møller, R. S., Benninger, F., Afawi, Z., Rubboli, G., Reid, C. A., Maljevic, S., Lerche, H., Lehesjoki, A-E., Petrou, S. & Berkovic, S. F., maj 2017, I : Annals of Neurology. 81, 5, s. 677-689

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Mutation
Electroencephalography
Unverricht-Lundborg Syndrome
Wheelchairs
Corpus Callosum

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

de Kovel, C. G. F., Syrbe, S., Brilstra, E. H., Verbeek, N. E., Kerr, B., Dubbs, H., Bayat, A., Desai, S., Naidu, S., Srivastava, S., Cagaylan, H., Yis, U., Saunders, C., Rook, M., Plugge, S., Muhle, H., Afawi, Z., Klein, K-M., Jayaraman, V., Rajagopalan, R. & 15 flere, Goldberg, E., Marsh, E., Kessler, S., Bergqvist, C., Conlin, L. K., Krok, B. L., Thiffault, I., Pendziwiat, M., Helbig, I., Polster, T., Borggraefe, I., Lemke, J. R., van den Boogaardt, M-J., Møller, R. S. & Koeleman, B. P. C., 2017, I : Archives of Neurology. 74, 10, s. 1228-1236

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S 6
Genetic Association Studies
Research
Parents
Outcome Assessment (Health Care)
164 Downloads (Pure)

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Baldo, C., Bayat, A., Belligni, E., Bonvicini, F., Breckpot, J., Callewaert, B., Cocchi, G., Cuturilo, G., Devriendt, K., Dinulos, M. B., Djuric, O. & 38 flere, Epifanio, R., Faravelli, F., Formisano, D., Giordano, L., Grasso, M., Grønborg, S., Iodice, A., Iughetti, L., Lacombe, D., Maggi, M., Malbora, B., Mammi, I., Moutton, S., Møller, R. S., Muschke, P., Napoli, M., Pantaleoni, C., Pascarella, R., Pellicciari, A., Poch-Olive, M. L., Raviglione, F., Rivieri, F., Russo, C., Savasta, S., Scarano, G., Selicorni, A., Silengo, M., Sorge, G., Tarani, L., Tone, L. G., Toutain, A., Trimouille, A., Valera, E. T., Vergano, S. S., Zanotta, N., Zollino, M., Dobyns, W. B. & Paciorkowski, A. R., 2017, I : Genetics in Medicine. 19, 6, s. 691-700

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Fil
Neuroimaging
Haploinsufficiency
Hirschsprung Disease
Corpus Callosum
Genetic Association Studies
2016

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Gardella, E., Becker, F., Møller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Møller, L., Gellert, P., Heron, S., Dibbens, L. & 8 flere, Weckhuysen, S., Dahl, H. A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. & Weber, Y. G., 2016, I : Annals of Neurology. 79, 3, s. 428-436

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Mutation
Electroencephalography
Founder Effect
Exome
Shivering