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Rikke S Møller
Rikke S Møller
Professor, Danish Epilepsy Centre
Verified email at filadelfia.dk
Title
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Cited by
Year
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ...
Nature genetics 45 (7), 825-830, 2013
6942013
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ...
Nature genetics 41 (2), 160-162, 2009
6722009
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
5082017
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ...
Nature genetics 45 (9), 1067-1072, 2013
4992013
Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies
CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker, C Leu, C Kluck, ...
Brain 133 (1), 23-32, 2010
4982010
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ...
Nature genetics 47 (1), 39-46, 2015
3112015
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ...
Neurology 82 (14), 1245-1253, 2014
3102014
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
3092014
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
3002016
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
2862015
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
HC Mefford, S Clauin, AJ Sharp, RS Moller, R Ullmann, R Kapur, D Pinkel, ...
The American Journal of Human Genetics 81 (5), 1057-1069, 2007
2812007
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2792015
Familial and sporadic 15q13. 3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
LM Dibbens, S Mullen, I Helbig, HC Mefford, MA Bayly, S Bellows, C Leu, ...
Human molecular genetics 18 (19), 3626-3631, 2009
2592009
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
2572018
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ...
The American Journal of Human Genetics 93 (5), 967-975, 2013
2472013
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies
CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ...
The American Journal of Human Genetics 99 (2), 287-298, 2016
2462016
Progress in understanding and treating SCN2A-mediated disorders
SJ Sanders, AJ Campbell, JR Cottrell, RS Moller, FF Wagner, ...
Trends in neurosciences 41 (7), 442-456, 2018
2442018
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
2432014
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
MH Berryer, FF Hamdan, LL Klitten, RS Møller, L Carmant, ...
Human mutation 34 (2), 385-394, 2013
2402013
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
2332013
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