Rikke Stensbjerre Møller - publications

1.    Elena Gardella, FelicitasBecker, Rikke S. Møller, JulianSchubert, Johannes R. Lemke, Line HG Larsen, Hans Eiberg, MichaelNothnagel, Holger Thiele, Janine Altmüller, Steffen Syrbe, AndreasMerkenschlager, Thomas Bast, Bernhard Steinhoff, Peter Nürnberg, Yuan Mang,Louise Bakke Møller, Pia Gellert, Sarah Heron,  Leanne Dibbens, Sarah Weckhuysen,Hans Atli Dahl, Saskia Biskup, Peter Nürnberg, Niels Tommerup, HelleHjalgrim, MD, Holger Lerche, Sándor Beniczky, Yvonne G. Weber. SCN8A causes benign infantile seizures and paroxysmal kinesigenic dyskinesia Annalsof Neurology 2015 Dec 17. [Epub ahead of print]

 

2.    Stamberger H, Nikanorova M, Willemsen MH, STXBP1 study group, De JongheP, Helbig I, Striano P, Lemke JR, MøllerRS (Corresponding author), Weckhuysen S. STXBP1encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology (inpress)

 

3.       Møller RS, Dahl HA, Helbig I. The contribution of next generation sequencing to epilepsy genetics. Expert Rev Mol Diagn. 2015;15(12):1531-8

 

4.       Møller RS, Johannesen KM. PrecisionMedicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers. Neurotherapeutics. 2016 Jan;13(1):190-1

 

5.     Hardies K, de KovelCG, Weckhuysen S,Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F,Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't SlotR, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A,Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Recessivemutations in SLC13A5 result in a loss of citrate transport and cause neonatalepilepsy, developmental delay and teeth hypoplasia.Brain. 2015 Nov;138(Pt 11):3238-50

 

6.     Larsen J, JohannesenKM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, WeckhuysenS, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of theEuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M,Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, HelbigI, Møller RS. The role ofSLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and theestimated frequency of GLUT1 deficiency syndrome.Epilepsia. 2015Dec;56(12):e203-8.

 

7.     Lal D, Steinbrücker S,Schubert J, Sander T, Becker F, Weber Y, Lerche H, Thiele H, Krause R,Lehesjoki AE, Nürnberg P, Palotie A, Neubauer BA, Muhle H, Stephani U, HelbigI, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIEconsortium, von Spiczak S, Lemke JR. Investigation of GRIN2A in commonepilepsy phenotypes. Epilepsy Res. 2015 Sep;115:95-9.

 

8.     Tan C, Shard C, Ranieri E,Hynes K, Pham DH, Leach D, Buchanan G, Corbett M, Shoubridge C, Kumar R,Douglas E, Nguyen LS, Mcmahon J, Sadleir L, Specchio N, Marini C, GuerriniR,  MollerRS, Depienne C, Haan E, Thomas PQ, Berkovic SF, Scheffer IE, Gecz J.Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolonedeficiency. Hum Mol Genet 2015 Sep 15;24(18):5250-9

 

9.     Møller RS, Heron SE, Larsen LHG, Lim CX, Ricos MG, Bayly ME, van Kempen MJA,Klinkenberg S, Andrews I, KelleyK, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, NabboutR, Poduri A,  Striano P, Baglietto MG,Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P,Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Mutations in KCNT1 cause a spectrum of focalepilepsies. Epilepsia 2015 Sep;56(9):e114-20.

 

10.  Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-NolstTrenité D, Sonsma AC, Koeleman BP, Lindhout D, Weber YG, Lerche H, Kapser C,Schankin CJ, Kunz WS, Surges R, Elger CE, Gaus V, Schmitz B, Helbig I, Muhle H,Stephani U, Klein KM, Rosenow F, Neubauer BA, Reinthaler EM, Zimprich F, FeuchtM, Møller RS, Hjalgrim H, De JongheP, Suls A, Lieb W, Franke A, Strauch K, Gieger C, Schurmann C, Schminke U,Nürnberg P; EPICURE Consortium, Sander T. Burdenanalysis of rare microdeletions suggests a strong impact of neurodevelopmentalgenes in genetic generalised epilepsies.PLoS Genet. 2015 May 7;11(5):e1005226

 

11.  Alosi D, Klitten LL,Bak M, Hjalgrim H, Møller RS,Tommerup N. Dysregulationof FOXG1 by ring chromosome 14. Mol Cytogenet.2015 Apr 9;8:24

 

12.  Galizia EC*, Myers CT*,de Kovel C, Drury S, Chinthapalli KV, Muhle H, Sander T, Møller RS, Thiele H, Nürnberg P, Lerche H, EuroEPINOMICS CoGIEConsortium, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N,Jocic-Jakubi B, Covanis A, Capovilla G, Sadleir LG, Mullen S, Berkovic SF,Stephani U, Helbig I, ZEBRA, Kasteleijn-Nolst DG, Koeleman BPC^, Mefford HC^,Scheffer IE^, Sisodiya SM. CHD2 variants are arisk factor for photosensitivity in epilepsy. Brain, 2015 May;138(Pt5):1198-207

 

13.  Bayat A, Hjalgrim H, Møller RS.The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22000: Apopulation based study from 2004 to 2009. Epilepsia, 2015 Apr;56(4):e36-9

 

14.  Lal D, Ruppert AK, Trucks H,Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, Sonsma AC, Koeleman BP,Lindhout D, Weber YG, Lerche H, Kapser C, Schankin CJ, Kunz WS, Surges R, ElgerCE, Gaus V, Schmitz B, Helbig I, Muhle H, Stephani U, Klein KM, Rosenow F,Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Lieb W, Franke A,Strauch K, Gieger C, Schurmann C, Schminke U, Nürnberg P; EPICURE Consortium,Sander T. Burden analysis of rare microdeletions suggests a strong impact ofneurodevelopmental genes in genetic generalised epilepsies. PLoS Genet. 2015 May7;11(5):e1005226

 

15.  Alosi D, Klitten LL, Bak M, Hjalgrim H, Møller RS, Tommerup N. Dysregulationof FOXG1 by ring chromosome 14. Mol Cytogenet. 2015 Apr 9;8:24. doi:10.1186/s13039-015-0129-4. eCollection 2015.

 

16.  Carvill GL, McMahon JM, SchneiderA, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N,Mecarelli O, Smith RL, Leventer RJ, MøllerRS, Nikanorova M, Dimova P, Jordanova A, Petrou S; EuroEPINOMICS RareEpilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, HelbigI, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC. Mutationsin the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet. 2015 May7;96(5):808-15.

 

17.  Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Caglayan HS, Arslan M,Serratos JM, Löffler H, Detert K, Dom T, Vogt H, Krämer G, Synofzik M, SchölsL, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu D,Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A,Bernhard M, Merkenschlager A, Kiess W, EuroEPINOMICS RES consortium, Palotie A,Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Sisodiya SM,Weckhuysen S, Lerche H, Lemke JR. Hyperexcitability or electrical silencing: denovo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.NatureGenetics 2015 Apr;47(4):393-9  

 

18.  Larsen J, Carvill GL,Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, NielsenJE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M,Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C,Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, BevotA, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; On behalf of theEuroEPINOMICS RES Consortium CRP. The phenotypicspectrum of SCN8A encephalopathy. Neurology. 2015 Feb 3;84(5):480-9

 

19.  Hardies K, May P, Djémié T, Tarta-ArseneO, Deconinck T, Craiu D, Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J; AR working group of the EuroEPINOMICSRES Consortium. Recessiveloss-of-function mutations in AP4S1 cause mild fever-sensitive seizures,developmental delay, and spastic paraplegia through loss of AP-4 complexassembly. Hum Mol Genet. 2015 Apr15;24(8):2218-27

 

20.  Hjalgrim H, Hansen LK,Ousager LB, Møller RS. [Early-onsetepileptic encephalopathy caused by CDKL5 mutation.]Ugeskr Laeger. 2014 Dec 15;176(25A). pii: V01130031. Danish.

 

21.  Kaalund SS, Venø MT, Bak M, MøllerRS, Laursen H, Madsen F, Broholm H, Quistorff B, Uldall P, Tommerup N,Kauppinen S, Sabers A, Fluiter K, Møller LB, Nossent AY, Silahtaroglu A, KjemsJ, Aronica E, Tümer Z. Aberrant expression of miR-218 and miR-204 in humanmesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonalguidance. Epilepsia. 2014 Nov 19. doi: 10.1111/epi.12839.

 

22.  Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA,Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE,Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L,Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, SaidE, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A,Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, KauffmannB, Duchowny M, Møller RS,Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H,Palotie A, Lehesjoki AE. A recurrent de novo mutation in KCNC1 causesprogressive myoclonus epilepsy.Nat Genet. 2014 Nov 17. doi: 10.1038/ng.3144.

 

23.  Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, MuhleH, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR,Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M,Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP;EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, GlusmanG, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I,Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Mutations inSTX1B, encoding a presynaptic protein, cause fever-associated epilepsysyndromes. Nat Genet. 2014 Nov 2. doi: 10.1038/ng.3130.

 

24.  Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, FeuchtM, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J,Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, WittigM, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF,Beckmann JS; EPICURE Consortium, TheEuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F,Neubauer BA; 16p11 2 European Consortium.
Duplications confer risk for typical and atypical Rolandic epilepsy.Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306.

 

25.  EuroEPINOMICS-RESConsortium. Electronic address: euroepinomics-RES@ua.ac.be; Epilepsy Phenome/Genome Project; Epi4K Consortium; EuroEPINOMICS-RESConsortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De Novo Mutations in Synaptic Transmission Genes Including DNM1 CauseEpileptic Encephalopathies Am J Hum Genet.2014 Sep 24. pii: S0002-9297(14)00383-8. doi: 10.1016/j.ajhg.2014.08.013. [Epubahead of print]

 

26.  Mai-Britt Mosbech, Anne S. B. Olsen, Ditte Neess, Oshrit Ben-David,Laura L. Klitten, Jan Larsen, Anne Sabers, John Vissing, Jørgen E. Nielsen, LisHasholt, Andres D. Klein, Michael M. Tsoory, Helle Hjalgrim, Niels Tommerup,Anthony H. Futerman, Rikke S. Møller& Nils J. Færgeman. Reduced ceramide synthase 2 activity causes progressive myoclonic  epilepsy. Annals of Clinical and Translational Neurology

 

27.  International LeagueAgainst Epilepsy Consortium on Complex Epilepsies.Genetic determinants of common epilepsies: a meta-analysis of genome-wideassociation studies.Electronic address: epilepsy-austin@unimelb.edu.au. Lancet Neurol. 2014 Sep;13(9):893-903.

 

28.  Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, CancèsC, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O,Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M,Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE,De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium, Haaf T, LeGuern E, Depienne C. De novomutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014 Jun;46(6):640-5.

 

29.  Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S,Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL,Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF,Scheffer IE, Mefford HC. GABRA1 andSTXBP1: novel genetic causes of Dravet syndrome.Neurology. 2014 Apr 8;82(14):1245-53

 

30.  Enggaard Hoeffding LK, Hansen T, Ingason A, Doung L, Thygesen JH, Møller RS, Tommerup N, Kirov G, RujescuD, Larsen LA, Werge T. Sequenceanalysis of 17 NRXN1 deletions.  Am J Med Genet B Neuropsychiatr Genet. 2014Jan;165(1):52-61.

 

31.  Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, RavnK, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG,Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, LundAM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P,Kjaergaard S, Tümer Z, Kleefstra T. X-linkedcongenital ptosis and associated intellectual disability, short stature,microcephaly, cleft palate, digital and genital abnormalities define novelXq25q26 duplication syndrome. Hum Genet. 2014May;133(5):625-38.

 

32.  Larsen J, Stubbings V,Møller RS, Hjalgrim H. [Glucosetransporter-1 deficiency syndrome can cause various clinical symptoms.] Ugeskr Laeger. 2013 Dec 9;175(50A). pii: V04130248. Danish.

 

33.  Helbig I, Swinkels ME, Aten E, Caliebe A, van 't Slot R, Boor R, vonSpiczak S, Muhle H, Jähn JA, van Binsbergen E, van Nieuwenhuizen O, Jansen FE,Braun KP, de Haan GJ, Tommerup N, Stephani U, Hjalgrim H, Poot M, Lindhout D,Brilstra EH, Møller RS, Koeleman BP.Structuralgenomic variation in childhood epilepsies with complex phenotypes. Eur J Hum Genet. 2013 Nov 27. doi:10.1038/ejhg.2013.262. [Epub ahead of print]

 

34.  Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, SiekierskaA, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM,Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR,Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P,Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G,Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, DeJonghe P, Helbig I; EuroEPINOMICS RES Consortium. De NovoLoss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic EpilepticEncephalopathy Sharing Features with Dravet Syndrome. Am J Hum Genet. 2013 Nov 7;93(5):967-75.

 

35.  Baumgart A, Spiczak SV, Verhoeven-Duif NM, Møller RS, Boor R, Muhle H, Jähn JA, Klitten LL, Hjalgrim H,Lindhout D, Stephani U, Kempen MJ, Helbig I. AtypicalVitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and InfantileEpilepsies. J Child Neurol.2013 Oct 10. [Epub ahead of print]

 

36.  Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS,Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L,Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B,Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, StrianoP, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group. Extending the KCNQ2encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients. Neurology. 2013 Nov 5;81(19):1697-703.

 

37.  Lal D, Rheinthaler EM, Altmüller J, Toliat M, Thiele H, Nürnberg P,Lerche H, Hahn A, Møller RS, MuhleH, Sander T, Zimprich F, Neubauer BA. RBFOX1 and RBFOX3 mutations in Rolandic epilepsy. PLoS One.2013 Sep 6;8(9):e73323

 

38.  Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, GeiderK, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, MuhleH, Boor R, Van Paesschen W, Caraballo R, Fejerman N,Weckhuysen S, De Jonghe P,Larsen J, Møller RS, Hjalgrim H,Addis L, Tang S, Hughes E, Pal DK, Veri K,Vaher U, Talvik T, Dimova P, LópezRG, Serratosa JM, Linnankivi J, Lehesjoki A, Ruf S, Wolff M,Buerki S, WohlrabG, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE,Kutzer C, Sperner J, Becker F, Weber YG, Feucht M,Steinböck H, Neophythou B,Ronen GM, Gruber-Sedlmayr U,Geldner J, Harvey RJ, Hoffmann P, Herms S, AltmüllerJ,Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche I,Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandicspikes. Nat Genet. 2013 Sep;45(9):1067-72

 

39.  Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A,Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM,Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R,Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J,Berkovic SF, Scheffer IE, Mefford HC. Targetingresequencing in epileptic encephalopathies identifies de novo mutations in CHD2and SYNGAP1Nat Genet. 2013 May 26

 

40.  LB Lomax, MA Bayly, H Hjalgrim, RSMøller, AM Vlaar, KM Aaberg, L Gandolfo, JD O'Sullivan, GC Korenke, BRBloem, IF de Coo, JMA Verhagen, I Said, T Prescott, A Stray-Pedersen, MRasmussen, DF Vears, AE Lehesjoki, MA Corbett, M Bahlo, J Gecz, LM Dibbens, SFBerkovic. ‘North Sea’ progressive myoclonus epilepsy: Clinical characteristicsof subjects with GOSR2 mutation. Brain 2013Apr;136(Pt 4):1146-54.

 

41.  S Weckhuysen, P Holmgren, R Hendrickx, A Jansen, D Hasaerts, C Dielman,N Boutry‐Kryza,G Lesca, S v. Spiczak, I Helbig, D Gill, S Yendle, RS Møller, L Klitten, C Korff, P De Jonghe, H Hjalgrim, IEScheffer, A Suls. Reduction of seizure frequency after epilepsy surgery in apatient with STXBP1 encephalopathy and clinical description of six novel mutationcarriers. Epilepsia 2013May;54(5):e74-80

 

42.  Lal D, Trucks H, Møller RS,Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F,Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T,Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium. Rare exonic deletions of the RBFOX1 gene increase riskof idiopathic generalized epilepsy. Epilepsia. 2013Feb;54(2):265-71.

 

43.  Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL, DahlHA, Brusgaard K, Neubauer B, De Jonghe P, Tommerup N, Stephani U, Hjalgrim H, Møller RS. The role of SLC2A1 in early onset and childhood absenceepilepsies. Epilepsy Res. 2013 [Epub ahead of print]

 

44.  Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, FrankeA, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP,Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I,Sander T; EPICURE Consortium. Exon-disrupting deletions of NRXN1 in idiopathicgeneralized epilepsy. 2013 Feb;54(2):256-64.

 

45.  Berryer MH, Hamdan FF, Klitten LL, MøllerRS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D,Neugnot M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, RouleauGA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA,Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Mutations in SYNGAP1 CauseIntellectual Disability, Autism and a Specific form of Epilepsy by InducingHaploinsufficiency. Hum Mutat. 2013 Feb;34(2):385-94

 

46.  Consortium E, Consortium E, Steffens M, Leu C, Ruppert AK, Zara F,Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, LaNeve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ,Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, SteinhoffBJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S,Ostertag P, Helbig I, Stephani U, MøllerRS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE,Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, SirenA, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, GuerreroR, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, KapserC, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, YapiciZ, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T,Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, SchulzH, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, AvanziniG, Koeleman BP, Sander T. Genome-wide association analysis of geneticgeneralized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3and 17q21.32. Hum Mol Genet. 2012 Dec 15;21(24):5359-72

 

47. Jakobsen LP, PfeifferP, Andersen M,  Eiberg H, Hansen L, MangY, Bak M, Møller RS, Klitten LL,Tommerup N. Am J Med Genet A. Geneticstudies in congenital midline cervical cleft. 2012 Aug;158A(8):2021-6.

 

48.  Duong L, Klitten LL, Møller RS,Ingason A, Jakobsen K, Skjødt C, Hjalgrim H, Werge T, Tommerup N. Mutations inNRXN1 in a family multiply affected with brain disorders. Am JMed Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):354-8.

 

49.  EPICURE Consortium, Leu C, de Kovel CG, Zara F, Striano P, Pezzella M,Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F,Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, LercheH, Kleefuß-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S,Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R,Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F,Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H,Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F,Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. Genome-widelinkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 forgenetic generalized epilepsies. Epilepsia.2012 Feb;53(2):308-18

 

50.  Hansen LK, Ousager LB, Møller RS,Uldall P, Hjalgrim H. Genetic causes of infantile spasms -a systematic review. Ugeskr Laeger.2012 Apr 23;174(17):1152-5.

 

51.  Klitten LL, Møller RS,Nikanorova M, Silahtaroglu A, Hjalgrim H, Tommerup N. A balanced Translocationdisrupts SYNGAP1 in a patient withintellectual disability, speech impairment and Epilepsy with Myoclonic Absences(EMA). Epilepsia. 2011 Dec;52(12):e190-3

 

52.  Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, TommerupN, Ullmann R, Møller RS. Highfrequency of rare copy number variants affecting functionally related genes inpatients with structural brain malformations.HumMutat.2011 Dec;32(12):1427-35.

 

53. Møller RS, Hjalgrim H. Submikroskopiske kromosomforandringer prædisponerer til IdiopatiskGeneraliseret Epilepsi. Ugeskr Laeger. 2011, 173(16-17):1201-4.Danish.

 

54. Svenstrup, K, Møller RS, Christensen J,Budtz-Jørgensen E, Gilling M, Nielsen JE. Complexhereditary spastic paraplegia with idiopathic generalized epilepsy (IGE) is dueto a mutation in NIPA1 at 15q11.2. Eur JNeurol.2011, 18(9):1197-9

 

55. NissenKB, Søndergaard C, Thelle TH, Møller RS.Mowat-Wilson syndrom: De første tre danske tilfælde. UgeskrLaeger. 2011, 173(36):2199-200

 

56. Sehested LT, MøllerRS,Bache I, Andersen NB, Ullmann R, Tommerup N, Tümer Z. Deletion of 7q34-q36.2 in two siblings withmental retardation, language delay, primary amenorrhea, and dysmorphicfeatures. Am J Med Genet A. 2010 152A:3115-9

 

57.  Klitten LL, Møller RS, RavnK, Hjalgrim H, Tommerup N. Duplication of MAOA, MAOB and NDP in a patient withmental retardation and epilepsy. Eur J Hum Genet. 2011, 19:1-2

 

58.  de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-LieAA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. Recurrent microdeletions at15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain.2010, 133:23-32

 

59.  Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C,Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, EichlerEE, Scheffer IE, Mulley JC, Berkovic SF. Familial and sporadic 15q13.3 microdeletionsin idiopathic generalized epilepsy: precedent for disorders with complexinheritance. Hum Mol Genet. 2009, 18(19):3626-31

 

60.  Klitten LL, Tommerup N, Hjalgrim H, Møller RS. 9q Subtelomeric deletionsyndrome with diaphragmatic hernia. Am J MedGenet A. 2009,149A(5):1086-8.

 

61.  Zhang L, Tümer Z, Møllgård K, Barbi G, Bendsen E, Møller RS, Ullmann R, Papadopoulos N, Vogelstein B, Tommerup N andLarsen LA. Characterization of a t(5;8)(q33;q22) translocation in a patientwith mental retardation and congenital heart disease: implications forinvolvement of the proto-oncogene gene RUNX1T1 in human brain and heartdevelopment. EurJ Hum Genet. 2009, 17:1010-8

 

62.  Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, MuhleH, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA,Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H,Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de HaanGJ, Møller RS, Hjalgrim H, LucianoD, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, KoelemanBP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. 15q13.3microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009,41:160-2.

 

63.  Kaalund SS, Møller RS, TészásA, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer T: Investigation of4q-deletion in two unrelated patients using array CGH. Am J Med Genet A. 2008,146A:2431-4.

 

64.  Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C,Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM. Truncation of theDown syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.Am J HumGenet. 2008, 82:1165-70

 

65.  Tészás A, Møller RS, Czakó M,Kjaer KW, Ullmann R, Melegh B, Tommerup N, Kosztolányi G. A cryptic unbalancedtranslocation resulting in del13q and dup15q. Am J Med Genet A. 2008,146A(19):2570-3.

 

66.  Engenheiro E, Møller RS,Pintoc M, Soaresc G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z.Mowat-Wilson syndrome: an underdiagnosed syndrome? Clin Genet. 2008, 73:579-84

 

67.  Møller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z. Balanced translocation in a patient with severe myoclonic epilepsy ofinfancy disrupts the sodium channel gene SCN1A. Epilepsia. 2008, 49:1091-4

 

68.  Mefford HC, Clauin S, Sharp AJ, MøllerRS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ropers HH, Tommerup N, EichlerEE, Bellanne-Chantelot C. Recurrent reciprocal rearrangements of 17q12 areassociated with renal disease, diabetes and epilepsy. Am J Hum Genet. 2007,81:1057-69

 

69.  Møller RS, Hansen CP, Jackson GD, Ullmann R, Ropers HH, Tommerup N, Tümer Z. Interstitial deletion of chromosome 4passociated with mild mental retardation, epilepsy and polymicrogyria of theleft temporal lobe. Clin Genet. 2007 72:593-8

 

70.  Hansen CP, Moller R, Tumer Z, Tommerup N; Dansk Epilepsi Selskab. The genetic basis of epilepsy. The Danish Epilepsy Society. UgeskrLaeger. 2007,169(12):1102

 

71.  Wadum MC, Villadsen JK, Feddersen S, Moller RS, Neergaard TB, Kragelund BB, Hojrup P, Faergeman NJ,Knudsen J. Fluorescently labelled bovine acyl-CoA-binding protein acting as anacyl-CoA sensor: interaction with CoA and acyl-CoA esters and its use inmeasuring free acyl-CoA esters and non-esterified fatty acids. Biochem J. 2002,365:165-72