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Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-López R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Dibbens LM, et al. Among authors: de vries b. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542697
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.
van Rootselaar AF, Groffen AJ, de Vries B, Callenbach PMC, Santen GWE, Koelewijn S, Vijfhuizen LS, Buijink A, Tijssen MAJ, van den Maagdenberg AMJM. van Rootselaar AF, et al. Among authors: de vries b. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10. Neurology. 2017. PMID: 29127138
Molecular genetics of migraine.
de Vries B, Frants RR, Ferrari MD, van den Maagdenberg AM. de Vries B, et al. Hum Genet. 2009 Jul;126(1):115-32. doi: 10.1007/s00439-009-0684-z. Epub 2009 May 20. Hum Genet. 2009. PMID: 19455354 Review.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Among authors: de vries b. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
PRRT2 mutation causes benign familial infantile convulsions.
de Vries B, Callenbach PM, Kamphorst JT, Weller CM, Koelewijn SC, ten Houten R, de Coo IF, Brouwer OF, van den Maagdenberg AM. de Vries B, et al. Among authors: de coo if. Neurology. 2012 Nov 20;79(21):2154-5. doi: 10.1212/WNL.0b013e3182752c30. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077019
Two novel SCN1A mutations identified in families with familial hemiplegic migraine.
Weller CM, Pelzer N, de Vries B, López MA, De Fàbregues O, Pascual J, Arroyo MA, Koelewijn SC, Stam AH, Haan J, Ferrari MD, Terwindt GM, van den Maagdenberg AM. Weller CM, et al. Among authors: de vries b, de fabregues o. Cephalalgia. 2014 Nov;34(13):1062-9. doi: 10.1177/0333102414529195. Epub 2014 Apr 4. Cephalalgia. 2014. PMID: 24707016
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland SE, Todt U, McArdle WL, Quaye L, Koiranen M, Ikram MA, Lehtimäki T, Stam AH, Ligthart L, Wedenoja J, Dunham I, Neale BM, Palta P, Hamalainen E, Schürks M, Rose LM, Buring JE, Ridker PM, Steinberg S, Stefansson H, Jakobsson F, Lawlor DA, Evans DM, Ring SM, Färkkilä M, Artto V, Kaunisto MA, Freilinger T, Schoenen J, Frants RR, Pelzer N, Weller CM, Zielman R, Heath AC, Madden PAF, Montgomery GW, Martin NG, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams FMK, Hartikainen AL, Pouta A, van den Ende J, Uitterlinden AG, Hofman A, Amin N, Hottenga JJ, Vink JM, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann HE, Aromaa A, Eriksson JG, Traynor B, Trabzuni D; North American Brain Expression Consortium; UK Brain Expression Consortium; Rossin E, Lage K, Jacobs SBR, Gibbs JR, Birney E, Kaprio J, Penninx BW, Boomsma DI, van Duijn C, Raitakari O, Jarvelin MR, Zwart JA, Cherkas L, Strachan DP, Kubisch C, Ferrari MD, van den Maagdenberg AMJM, Dichgans M, Wessman M, Smith GD, Stefansson K, Daly MJ, Nyholt DR, Chasman D, Palotie A. Anttila V, et al. Among authors: de vries b. Nat Genet. 2013 Aug;45(8):912-917. doi: 10.1038/ng.2676. Epub 2013 Jun 23. Nat Genet. 2013. PMID: 23793025 Free PMC article.
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Müller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hämäläinen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze-Kuhn K, Goebel I, Borck G, Göbel H, Steinberg S, Wolf C, Björnsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsäläinen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Färkkilä M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A; International Headache Genetics Consortium. Anttila V, et al. Among authors: de vries b. Nat Genet. 2010 Oct;42(10):869-73. doi: 10.1038/ng.652. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802479 Free PMC article.
Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
Chasman DI, Schürks M, Anttila V, de Vries B, Schminke U, Launer LJ, Terwindt GM, van den Maagdenberg AM, Fendrich K, Völzke H, Ernst F, Griffiths LR, Buring JE, Kallela M, Freilinger T, Kubisch C, Ridker PM, Palotie A, Ferrari MD, Hoffmann W, Zee RY, Kurth T. Chasman DI, et al. Among authors: de vries b. Nat Genet. 2011 Jun 12;43(7):695-8. doi: 10.1038/ng.856. Nat Genet. 2011. PMID: 21666692 Free PMC article.
Pearls and pitfalls in genetic studies of migraine.
Eising E, de Vries B, Ferrari MD, Terwindt GM, van den Maagdenberg AM. Eising E, et al. Among authors: de vries b. Cephalalgia. 2013 Jun;33(8):614-25. doi: 10.1177/0333102413484988. Cephalalgia. 2013. PMID: 23671257 Review.
696 results