Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way (original) (raw)
References
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, 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 Haan GJ, Møller RS, et al: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009, 41: 160-162. 10.1038/ng.292. ArticlePubMedCASPubMed Central Google Scholar
Ryan SG: Partial epilepsy: chinks in the armour. Nat Genet. 1995, 10: 4-6. 10.1038/ng0595-4. ArticlePubMedCAS Google Scholar
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF: A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 1995, 11: 201-203. 10.1038/ng1095-201. ArticlePubMedCAS Google Scholar
Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK: A potassium channel mutation in neonatal human epilepsy. Science. 1998, 279: 403-406. 10.1126/science.279.5349.403. ArticlePubMedCAS Google Scholar
Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M: A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 1998, 18: 53-55. 10.1038/ng0198-53. ArticlePubMedCAS Google Scholar
Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M: A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet. 1998, 18: 25-29. 10.1038/ng0198-25. ArticlePubMedCAS Google Scholar
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC: Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 1998, 19: 366-370. 10.1038/448. ArticlePubMedCAS Google Scholar
Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC: Channelopathies in idiopathic epilepsy. Neurotherapeutics. 2007, 4: 295-304. 10.1016/j.nurt.2007.01.009. ArticlePubMedCAS Google Scholar
Gargus JJ: Unraveling monogenic channelopathies and their implications for complex polygenic disease. Am J Hum Genet. 2003, 72: 785-803. 10.1086/374317. ArticlePubMedCASPubMed Central Google Scholar
Dibbens LM, Heron SE, Mulley JC: A polygenic heterogeneity model for common epilepsies with complex genetics. Genes Brain Behav. 2007, 6: 593-597. 10.1111/j.1601-183X.2007.00333.x. ArticlePubMedCAS Google Scholar
Ohmori I, Ouchida M, Miki T, Mimaki N, Kiyonaka S, Nishiki T, Tomizawa K, Mori Y, Matsui H: A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Neurobiol Dis. 2008, 32: 349-354. 10.1016/j.nbd.2008.07.017. ArticlePubMedCAS Google Scholar
Kryukov GV, Pennacchio LA, Sunyaev SR: Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet. 2007, 80: 727-739. 10.1086/513473. ArticlePubMedCASPubMed Central Google Scholar
Dibbens LM, Harkin LA, Richards M, Hodgson BL, Clarke AL, Petrou S, Scheffer IE, Berkovic SF, Mulley JC: The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies. Neurosci Lett. 2009, 453: 162-165. 10.1016/j.neulet.2009.02.038. ArticlePubMedCAS Google Scholar
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, et al: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet. 2008, 40: 322-328. 10.1038/ng.93. ArticlePubMedCASPubMed Central Google Scholar
Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih M, Soul J, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff P, Yusupov R, Gusella JF, et al: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatirc disorders. J Med Genet. 2008, [Epub ahead of print]. Google Scholar
International Schizophrenia Consortium: Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008, 455: 237-241. 10.1038/nature07239. Article Google Scholar
Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, et al: Large recurrent microdeletions associated with schizophrenia. Nature. 2008, 455: 232-236. 10.1038/nature07229. ArticlePubMedCASPubMed Central Google Scholar
Lupski JR: Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998, 14: 417-422. 10.1016/S0168-9525(98)01555-8. ArticlePubMedCAS Google Scholar
Orr-Urtreger A, Göldner FM, Saeki M, Lorenzo I, Goldberg L, De Biasi M, Dani JA, Patrick JW, Beaudet AL: Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents. J Neurosci. 1997, 17: 9165-9171. PubMedCAS Google Scholar
Fernandes C, Hoyle E, Dempster E, Schalkwyk LC, Collier DA: Performance deficit of alpha7 nicotinic receptor knockout mice in a delayed matching-to-place task suggests a mild impairment of working/episodic-like memory. Genes Brain Behav. 2006, 5: 433-440. 10.1111/j.1601-183X.2005.00176.x. ArticlePubMedCAS Google Scholar
Gordon AR, Outram SV, Keramatipour M, Goddard CA, Colledge WH, Metcalfe JC, Hager-Theodorides AL, Crompton T, Kemp PR: Splenomegaly and modified erythropoiesis in KLF13-/- mice. J Biol Chem. 2008, 283: 11897-11904. 10.1074/jbc.M709569200. ArticlePubMedCAS Google Scholar
Scheffer IE, Zhang YH, Jansen FE, Dibbens L: Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?. Brain Dev. 2009, [Epub ahead of print]. Google Scholar
Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF: A neurologist's guide to genome-wide association studies. Neurology. 2009, 72: 558-565. 10.1212/01.wnl.0000341942.29513.bd. ArticlePubMedCAS Google Scholar
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, et al: Strong association of de novo copy number mutations with autism. Science. 2007, 316: 445-449. 10.1126/science.1138659. ArticlePubMedCASPubMed Central Google Scholar
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, et al: Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008, 320: 539-543. 10.1126/science.1155174. ArticlePubMedCAS Google Scholar
Sharp AJ: Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat. 2009, 30: 135-144. 10.1002/humu.20843. ArticlePubMedCAS Google Scholar
Jallon P, Loiseau P, Loiseau J: Newly diagnosed unprovoked epileptic seizures: presentation at diagnosis in CAROLE study. Epilepsia. 2001, 42: 464-475. 10.1046/j.1528-1157.2001.31400.x. ArticlePubMedCAS Google Scholar
Tan NC, Mulley JC, Berkovic SF: Genetic association studies in epilepsy: "the truth is out there". Epilepsia. 2004, 45: 1429-1442. 10.1111/j.0013-9580.2004.22904.x. ArticlePubMedCAS Google Scholar
Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, Szoeke C, Murphy K, Kinirons P, O'Rourke D, Ge D, Depondt C, Claeys KG, Pandolfo M, Gumbs C, Walley N, McNamara J, Mulley JC, Linney KN, Sheffield LJ, Radtke RA, Tate SK, Chissoe SL, Gibson RA, Hosford D, Stanton A, Graves TD, Hanna MG, Eriksson K, Kantanen AM, et al: Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol. 2007, 6: 970-980. 10.1016/S1474-4422(07)70247-8. ArticlePubMedCAS Google Scholar
Taske NL, Williamson MP, Makoff A, Bate L, Curtis D, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Whitehouse WP, Rees M, Gardiner RM: Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14. Epilepsy Res. 2002, 49: 157-172. 10.1016/S0920-1211(02)00027-X. ArticlePubMedCAS Google Scholar
Elmslie FV, Rees M, Williamson MP, Kerr M, Kjeldsen MJ, Pang KA, Sundqvist A, Friis ML, Chadwick D, Richens A, Covanis A, Santos M, Arzimanoglou A, Panayiotopoulos CP, Curtis D, Whitehouse WP, Gardiner RM: Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet. 1997, 6: 1329-1334. 10.1093/hmg/6.8.1329. ArticlePubMedCAS Google Scholar