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Items: 1 to 50 of 188

1.

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.

de Lange IM, Weuring W, van 't Slot R, Gunning B, Sonsma ACM, McCormack M, de Kovel C, van Gemert LJJM, Mulder F, van Kempen MJA, Knoers NVAM, Brilstra EH, Koeleman BPC.

Mol Genet Genomic Med. 2019 Jul;7(7):e00727. doi: 10.1002/mgg3.727. Epub 2019 May 29.

2.

Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function.

He Y, de Witte LD, Schubart CD, Van Gastel WA, Koeleman BPC, de Jong S, Ophoff RA, Hol EM, Boks MP.

Eur Neuropsychopharmacol. 2019 May;29(5):643-652. doi: 10.1016/j.euroneuro.2019.03.004. Epub 2019 Mar 15.

PMID:
30879928
3.

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Berghuis B, Stapleton C, Sonsma ACM, Hulst J, de Haan GJ, Lindhout D, Demurtas R; EpiPGX Consortium, Krause R, Depondt C, Kunz WS, Zara F, Striano P, Craig J, Auce P, Marson AG, Stefansson H, O'Brien TJ, Johnson MR, Sills GJ, Wolking S, Lerche H, Sisodiya SM, Sander JW, Cavalleri GL, Koeleman BPC, McCormack M.

Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar.

4.

Outcomes and comorbidities of SCN1A-related seizure disorders.

de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Sinoo C, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH.

Epilepsy Behav. 2019 Jan;90:252-259. doi: 10.1016/j.yebeh.2018.09.041. Epub 2018 Dec 5.

5.

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

de Lange IM, Koudijs MJ, van 't Slot R, Sonsma ACM, Mulder F, Carbo EC, van Kempen MJA, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.

J Med Genet. 2019 Feb;56(2):75-80. doi: 10.1136/jmedgenet-2018-105672. Epub 2018 Oct 27.

PMID:
30368457
6.

Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors.

Stevelink R, Koeleman BPC, Sander JW, Jansen FE, Braun KPJ.

Eur J Neurol. 2019 Jun;26(6):856-864. doi: 10.1111/ene.13811. Epub 2018 Oct 7.

7.

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.

Kuiper JJW, Setten JV, Devall M, Cretu-Stancu M, Hiddingh S, Ophoff RA, Missotten TOAR, Velthoven MV, Den Hollander AI, Hoyng CB, James E, Reeves E, Cordero-Coma M, Fonollosa A, Adán A, Martín J, Koeleman BPC, Boer JH, Pulit SL, Márquez A, Radstake TRDJ.

Hum Mol Genet. 2018 Dec 15;27(24):4333-4343. doi: 10.1093/hmg/ddy319.

8.

Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.

Schellevis RL, van Dijk EHC, Breukink MB, Altay L, Bakker B, Koeleman BPC, Kiemeney LA, Swinkels DW, Keunen JEE, Fauser S, Hoyng CB, den Hollander AI, Boon CJF, de Jong EK.

JAMA Ophthalmol. 2018 Oct 1;136(10):1128-1136. doi: 10.1001/jamaophthalmol.2018.3190.

PMID:
30073298
9.

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

May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium.

Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17.

10.

De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.

Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.

PMID:
29942082
11.

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.

de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH.

Epilepsia. 2018 Jun;59(6):1154-1165. doi: 10.1111/epi.14191. Epub 2018 May 11.

12.

Abnormal islet sphingolipid metabolism in type 1 diabetes.

Holm LJ, Krogvold L, Hasselby JP, Kaur S, Claessens LA, Russell MA, Mathews CE, Hanssen KF, Morgan NG, Koeleman BPC, Roep BO, Gerling IC, Pociot F, Dahl-Jørgensen K, Buschard K.

Diabetologia. 2018 Jul;61(7):1650-1661. doi: 10.1007/s00125-018-4614-2. Epub 2018 Apr 18.

13.

Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review.

Stevelink R, Sanders MW, Tuinman MP, Brilstra EH, Koeleman BP, Jansen FE, Braun KP.

Epileptic Disord. 2018 Apr 1;20(2):99-115. doi: 10.1684/epd.2018.0959. Review.

14.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.

Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20.

15.

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

McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;, Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;, Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;, Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;, Cavalleri GL.

Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29. Erratum in: Neurology. 2018 Oct 16;91(16):765.

16.

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Koeleman BPC, Kunz WS, Lerche H, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Sisodiya SM, Depondt C; EpiPGX Consortium.

Epilepsia. 2017 Oct;58(10):1734-1741. doi: 10.1111/epi.13871. Epub 2017 Aug 31.

17.

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

de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, 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 KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC.

JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714.

18.

Male patients affected by mosaic PCDH19 mutations: five new cases.

de Lange IM, Rump P, Neuteboom RF, Augustijn PB, Hodges K, Kistemaker AI, Brouwer OF, Mancini GMS, Newman HA, Vos YJ, Helbig KL, Peeters-Scholte C, Kriek M, Knoers NV, Lindhout D, Koeleman BPC, van Kempen MJA, Brilstra EH.

Neurogenetics. 2017 Jul;18(3):147-153. doi: 10.1007/s10048-017-0517-5. Epub 2017 Jul 1.

19.

Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.

Berghuis B, van der Palen J, de Haan GJ, Lindhout D, Koeleman BPC, Sander JW; EpiPGX Consortium.

Epilepsia. 2017 Jul;58(7):1227-1233. doi: 10.1111/epi.13777. Epub 2017 May 24.

20.

Identification of coagulation gene 3'UTR variants that are potentially regulated by microRNAs.

Vossen CY, van Hylckama Vlieg A, Teruel-Montoya R, Salloum-Asfar S, de Haan H, Corral J, Reitsma P, Koeleman BPC, Martínez C.

Br J Haematol. 2017 Jun;177(5):782-790. doi: 10.1111/bjh.14629. Epub 2017 Apr 26.

PMID:
28444748
21.

What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?

Koeleman BPC.

Neurosci Lett. 2018 Feb 22;667:10-16. doi: 10.1016/j.neulet.2017.03.042. Epub 2017 Mar 25. Review.

22.

Genetics of common forms of epilepsy.

Koeleman BPC.

Lancet Neurol. 2017 Feb;16(2):101-102. doi: 10.1016/S1474-4422(16)30400-8. No abstract available.

PMID:
28102142
23.

A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.

Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J, Schönau V, Sailler L, Papo T, Haroche J, Mahr A, Mouthon L, Molberg Ø, Diamantopoulos AP, Voskuyl A, Brouwer E, Daikeler T, Berger CT, Molloy ES, O'Neill L, Blockmans D, Lie BA, Mclaren P, Vyse TJ, Wijmenga C, Allanore Y, Koeleman BPC; Spanish CGA Group; UKGCA Consortium; Vasculitis Clinical Research Consortium, Barrett JH, Cid MC, Salvarani C, Merkel PA, Morgan AW, González-Gay MA, Martín J.

Am J Hum Genet. 2017 Jan 5;100(1):64-74. doi: 10.1016/j.ajhg.2016.11.013. Epub 2016 Dec 29.

24.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

Weeke LC, Brilstra E, Braun KP, Zonneveld-Huijssoon E, Salomons GS, Koeleman BP, van Gassen KL, van Straaten HL, Craiu D, de Vries LS.

Eur J Paediatr Neurol. 2017 Mar;21(2):396-403. doi: 10.1016/j.ejpn.2016.11.002. Epub 2016 Nov 19.

PMID:
27913086
25.

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG, Brilstra EH, van Kempen MJ, Van't Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S; EuroEPINOMICS RES Consortium, Koeleman BP.

Mol Genet Genomic Med. 2016 Jul 30;4(5):568-80. doi: 10.1002/mgg3.235. eCollection 2016 Sep.

26.

Survival of autoreactive T lymphocytes by microRNA-mediated regulation of apoptosis through TRAIL and Fas in type 1 diabetes.

de Jong VM, van der Slik AR, Laban S, van 't Slot R, Koeleman BP, Zaldumbide A, Roep BO.

Genes Immun. 2016 Sep;17(6):342-8. doi: 10.1038/gene.2016.29. Epub 2016 Jul 28.

PMID:
27467285
27.

Pitfalls in genetic testing: the story of missed SCN1A mutations.

Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A; EuroEPINOMICS‐RES Dravet working group.

Mol Genet Genomic Med. 2016 Apr 14;4(4):457-64. doi: 10.1002/mgg3.217. eCollection 2016 Jul.

28.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP.

J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.

29.

Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.

Berghuis B, de Haan GJ, van den Broek MP, Sander JW, Lindhout D, Koeleman BP.

Eur J Neurol. 2016 Sep;23(9):1393-9. doi: 10.1111/ene.13069. Epub 2016 Jun 23. Review.

PMID:
27333872
30.

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

Prins BP, Abbasi A, Wong A, Vaez A, Nolte I, Franceschini N, Stuart PE, Guterriez Achury J, Mistry V, Bradfield JP, Valdes AM, Bras J, Shatunov A; PAGE Consortium; International Stroke Genetics Consortium; Systemic Sclerosis consortium; Treat OA consortium; DIAGRAM Consortium; CARDIoGRAMplusC4D Consortium; ALS consortium; International Parkinson’s Disease Genomics Consortium; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; CKDGen consortium; GERAD1 Consortium; International Consortium for Blood Pressure; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Inflammation Working Group of the CHARGE Consortium, Lu C, Han B, Raychaudhuri S, Bevan S, Mayes MD, Tsoi LC, Evangelou E, Nair RP, Grant SF, Polychronakos C, Radstake TR, van Heel DA, Dunstan ML, Wood NW, Al-Chalabi A, Dehghan A, Hakonarson H, Markus HS, Elder JT, Knight J, Arking DE, Spector TD, Koeleman BP, van Duijn CM, Martin J, Morris AP, Weersma RK, Wijmenga C, Munroe PB, Perry JR, Pouget JG, Jamshidi Y, Snieder H, Alizadeh BZ.

PLoS Med. 2016 Jun 21;13(6):e1001976. doi: 10.1371/journal.pmed.1001976. eCollection 2016 Jun.

31.

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S.

Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6.

32.

Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies.

López-Isac E, Martín JE, Assassi S, Simeón CP, Carreira P, Ortego-Centeno N, Freire M, Beltrán E, Narváez J, Alegre-Sancho JJ; Spanish Scleroderma Group, Fernández-Gutiérrez B, Balsa A, Ortiz AM, González-Gay MA, Beretta L, Santaniello A, Bellocchi C, Lunardi C, Moroncini G, Gabrielli A, Witte T, Hunzelmann N, Distler JH, Riekemasten G, van der Helm-van Mil AH, de Vries-Bouwstra J, Magro-Checa C, Voskuyl AE, Vonk MC, Molberg Ø, Merriman T, Hesselstrand R, Nordin A, Padyukov L, Herrick A, Eyre S, Koeleman BP, Denton CP, Fonseca C, Radstake TR, Worthington J, Mayes MD, Martín J.

Arthritis Rheumatol. 2016 Sep;68(9):2338-44. doi: 10.1002/art.39730.

33.

Intronic Polymorphisms in the CDKN2B-AS1 Gene Are Strongly Associated with the Risk of Myocardial Infarction and Coronary Artery Disease in the Saudi Population.

AbdulAzeez S, Al-Nafie AN, Al-Shehri A, Borgio JF, Baranova EV, Al-Madan MS, Al-Ali RA, Al-Muhanna F, Al-Ali A, Al-Mansori M, Ibrahim MF, Asselbergs FW, Keating B, Koeleman BP, Al-Ali AK.

Int J Mol Sci. 2016 Mar 17;17(3):395. doi: 10.3390/ijms17030395.

34.

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population.

de Kovel CG, Mulder F, van Setten J, van 't Slot R, Al-Rubaish A, Alshehri AM, Al Faraidy K, Al-Ali A, Al-Madan M, Al Aqaili I, Larbi E, Al-Ali R, Alzahrani A, Asselbergs FW, Koeleman BP, Al-Ali A.

PLoS One. 2016 Feb 5;11(2):e0146502. doi: 10.1371/journal.pone.0146502. eCollection 2016.

35.

Genome-wide association study of sporadic brain arteriovenous malformations.

Weinsheimer S, Bendjilali N, Nelson J, Guo DE, Zaroff JG, Sidney S, McCulloch CE, Al-Shahi Salman R, Berg JN, Koeleman BP, Simon M, Bostroem A, Fontanella M, Sturiale CL, Pola R, Puca A, Lawton MT, Young WL, Pawlikowska L, Klijn CJ, Kim H; GEN-AVM Consortium.

J Neurol Neurosurg Psychiatry. 2016 Sep;87(9):916-23. doi: 10.1136/jnnp-2015-312272. Epub 2016 Jan 27.

36.

Variation in the CTLA4 3'UTR has phenotypic consequences for autoreactive T cells and associates with genetic risk for type 1 diabetes.

de Jong VM, Zaldumbide A, van der Slik AR, Laban S, Koeleman BP, Roep BO.

Genes Immun. 2016 Jan-Feb;17(1):75-8. doi: 10.1038/gene.2015.51. Epub 2015 Dec 10.

PMID:
26656450
37.

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

Klein KM, Pendziwiat M, Cohen R, Appenzeller S, de Kovel CG, Rosenow F, Koeleman BP, Kuhlenbäumer G, Sheintuch L, Veksler R, Friedman A, Afawi Z, Helbig I.

J Neurol. 2016 Jan;263(1):11-6. doi: 10.1007/s00415-015-7921-2. Epub 2015 Oct 12.

PMID:
26459092
38.

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Hardies K, de Kovel CG, 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 Slot R, 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.

Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17.

PMID:
26384929
39.

Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis.

Ochoa E, Martin JE, Assasi S, Beretta L, Carreira P, Guillén A, Simeón CP, Koumakis E, Dieude P, Allanore Y, García-Hernández FJ, Espinosa G, Castellví I, Trapiella JL, Rodriguez L, González-Gay MÁ, Egurbide MV, Sáez L, Callejas-Rubio JL, Vargas-Hitos JA, Hunzelmann N, Riemekasten G, Witte T, Distler JH, Kreuter A, Lunardi C, Santaniello A, Tan FK, Shiels PG, Herrick A, Worthington J, Vonk MC, Koeleman BP, Radstake TR, Mayes MD, Martin J; Spanish Scleroderma Group.

Clin Exp Rheumatol. 2015 Jul-Aug;33(4 Suppl 91):S31-5. Epub 2015 Aug 27.

PMID:
26314374
40.

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

Boerma RS, Braun KP, van den Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BP.

Neurotherapeutics. 2016 Jan;13(1):238. doi: 10.1007/s13311-015-0386-2. No abstract available.

41.

Susceptibility loci for sporadic brain arteriovenous malformation; a replication study and meta-analysis.

Kremer PH, Koeleman BP, Rinkel GJ, Diekstra FP, van den Berg LH, Veldink JH, Klijn CJ.

J Neurol Neurosurg Psychiatry. 2016 Jul;87(7):693-6. doi: 10.1136/jnnp-2014-310094. Epub 2015 Aug 13.

PMID:
26272027
42.

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

Boerma RS, Braun KP, van den Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BP.

Neurotherapeutics. 2016 Jan;13(1):192-7. doi: 10.1007/s13311-015-0372-8. Erratum in: Neurotherapeutics. 2016 Jan;13(1):238. van de Broek, Maarten P H [Corrected to van den Broek, Marcel P H].

43.

Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.

Berghuis B, de Kovel CG, van Iterson L, Lamberts RJ, Sander JW, Lindhout D, Koeleman BP.

Epilepsy Res. 2015 Sep;115:141-4. doi: 10.1016/j.eplepsyres.2015.06.007. Epub 2015 Jun 15.

PMID:
26220391
44.

Vitamin D receptor polymorphisms and growth until adulthood after very premature birth.

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J Bone Miner Metab. 2016 Sep;34(5):564-70. doi: 10.1007/s00774-015-0697-8. Epub 2015 Jul 28.

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J Rheumatol. 2015 Aug;42(8):1383-91. doi: 10.3899/jrheum.140741. Epub 2015 Jun 15.

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Seizure. 2015 Jul;29:90-6. doi: 10.1016/j.seizure.2015.03.020. Epub 2015 Apr 6. Erratum in: Seizure. 2015 Dec;33:104. de Graaf, Stan F [corrected to van de Graaf, Stan F].

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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

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A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.

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CHD2 variants are a risk factor for photosensitivity in epilepsy.

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