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Items: 1 to 20 of 70

1.

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.

2.

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.

PMID:
28806457
3.

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.

Yilmaz Z, Szatkiewicz JP, Crowley JJ, Ancalade N, Brandys MK, van Elburg A, de Kovel CGF, Adan RAH, Hinney A, Hebebrand J, Gratacos M, Fernandez-Aranda F, Escaramis G, Gonzalez JR, Estivill X; Genetic Consortium for Anorexia Nervosa, Wellcome Trust Case Control Consortium 3, Zeggini E, Sullivan PF, Bulik CM.

Psychiatr Genet. 2017 Aug;27(4):152-158. doi: 10.1097/YPG.0000000000000172.

PMID:
28368970
4.

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

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.

Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.

5.

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

de Kovel CGF, Lisgo S, Karlebach G, Ju J, Cheng G, Fisher SE, Francks C.

Biol Psychiatry. 2017 Aug 1;82(3):204-212. doi: 10.1016/j.biopsych.2017.01.016. Epub 2017 Feb 1.

PMID:
28267988
6.

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.

7.

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.

8.

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Hardies K, Cai Y, Jardel C, Jansen AC, Cao M, May P, Djémié T, Hachon Le Camus C, Keymolen K, Deconinck T, Bhambhani V, Long C, Sajan SA, Helbig KL; AR working group of the EuroEPINOMICS RES Consortium, Suls A, Balling R, Helbig I, De Jonghe P, Depienne C, De Camilli P, Weckhuysen S.

Brain. 2016 Sep;139(Pt 9):2420-30. doi: 10.1093/brain/aww180. Epub 2016 Jul 19.

9.

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.

10.

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Volker-Touw CM, de Koning HD, Giltay JC, de Kovel CG, van Kempen TS, Oberndorff KM, Boes ML, van Steensel MA, van Well GT, Blokx WA, Schalkwijk J, Simon A, Frenkel J, van Gijn ME.

Br J Dermatol. 2017 Jan;176(1):244-248. doi: 10.1111/bjd.14757. Epub 2016 Dec 8. No abstract available.

PMID:
27203668
11.

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.

12.

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.

13.

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
14.

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
15.

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.

16.

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].

17.

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
18.

Investigation of GRIN2A in common epilepsy phenotypes.

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, Helbig I, Becker AJ, Schoch S, Hansen J, Dorn T, Hohl C, Lüscher N; Epicure consortium; EuroEPINOMICS-CoGIE consortium, von Spiczak S, Lemke JR.

Epilepsy Res. 2015 Sep;115:95-9. doi: 10.1016/j.eplepsyres.2015.05.010. Epub 2015 Jun 2.

PMID:
26220384
19.

Effect of vaccinations on seizure risk and disease course in Dravet syndrome.

Verbeek NE, van der Maas NA, Sonsma AC, Ippel E, Vermeer-de Bondt PE, Hagebeuk E, Jansen FE, Geesink HH, Braun KP, de Louw A, Augustijn PB, Neuteboom RF, Schieving JH, Stroink H, Vermeulen RJ, Nicolai J, Brouwer OF, van Kempen M, de Kovel CG, Kemmeren JM, Koeleman BP, Knoers NV, Lindhout D, Gunning WB, Brilstra EH.

Neurology. 2015 Aug 18;85(7):596-603. doi: 10.1212/WNL.0000000000001855. Epub 2015 Jul 22.

PMID:
26203087
20.

Overview of genetic research in anorexia nervosa: The past, the present and the future.

Brandys MK, de Kovel CG, Kas MJ, van Elburg AA, Adan RA.

Int J Eat Disord. 2015 Nov;48(7):814-25. doi: 10.1002/eat.22400. Epub 2015 Jul 14. Review.

PMID:
26171770

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