SEARCH

SEARCH BY CITATION

References

  • Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. (2009) Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 41:10611067.
  • Alkan C, Coe BP, Eichler EE. (2011a) Genome structural variation discovery and genotyping. Nat Rev Genet 12:363376.
  • Alkan C, Sajjadian S, Eichler EE. (2011b) Limitations of next-generation genome sequence assembly. Nat Methods 8:6165.
  • Annegers JF, Hauser WA, Anderson VE, Kurland LT. (1982) The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology 32:174179.
  • Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE. (2002) Recent segmental duplications in the human genome. Science 297:10031007.
  • Barrett JC, Cardon LR. (2006) Evaluating coverage of genome-wide association studies. Nat Genet 38:659662.
  • Berkovic SF, Howell RA, Hay DA, Hopper JL. (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43:435445.
  • Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, Steinlein OK. (2005) The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis 20:799804.
  • Bisulli F, Tinuper P, Scudellaro E, Naldi I, Bagattin A, Avoni P, Michelucci R, Nobile C. (2004) A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. Ann Neurol 56:455456.
  • Bleck TP. (2007) Valproate was more effective than lamotrigine and better tolerated than topiramate in generalized or unclassified epilepsy. ACP J Club 147:7475.
  • Camfield PR. (2011) Definition and natural history of Lennox–Gastaut syndrome. Epilepsia 52(Suppl. 5):39.
  • Cardon LR, Bell JI. (2001) Association study designs for complex diseases. Nat Rev Genet 2:9199.
  • Cavalleri GL, Walley NM, Soranzo N, Mulley J, Doherty CP, Kapoor A, Depondt C, Lynch JM, Scheffer IE, Heils A, Gehrmann A, Kinirons P, Gandhi S, Satishchandra P, Wood NW, Anand A, Sander T, Berkovic SF, Delanty N, Goldstein DB, Sisodiya SM. (2007a) A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy. Epilepsia 48:706712.
  • 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, Kalviainen R, O’Brien TJ, Sander JW, Duncan JS, Scheffer IE, Berkovic SF, Wood NW, Doherty CP, Delanty N, Sisodiya SM, Goldstein DB. (2007b) Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case–control study. Lancet Neurol 6:970980.
  • Cirulli ET, Goldstein DB. (2010) Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11:415425.
  • Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. (2001) De Novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:13271332.
  • Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P. (2004) De novo KCNQ2 mutations in patients with benign neonatal seizures. Neurology 63:21552158.
  • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. (2010) Origins and functional impact of copy number variation in the human genome. Nature 464:704712.
  • Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. (2011) A copy number variation morbidity map of developmental delay. Nat Genet 43:838846.
  • Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. (2010) A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet 87:372375.
  • Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O’Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JMA, Lehesjoki AE, Gecz J, Berkovic SF. (2011) A mutation in the golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet 88:657663.
  • Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA. (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 261:921923.
  • Corey LA, Berg K, Pellock JM, Solaas MH, Nance WE, DeLorenzo RJ. (1991) The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins. Neurology 41:14331436.
  • de Kovel CG, Pinto D, de Haan GJ, Kasteleijn-Nolst Trenite DG, Lindhout D, Koeleman BP. (2007) Association analysis of BRD2 (RING3) and epilepsy in a Dutch population. Epilepsia 48:21912192.
  • 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-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenite DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Moller RS, Hjalgrim H, De Jonghe P, Suls A, Ruckert IM, Wichmann HE, Franke A, Schreiber S, Nurnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. (2010) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133:2332.
  • Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. (2009) Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 46:183191.
  • DHHS. (2010) Centers without Walls for Collaborative Research in the Epilepsies: Genetics and Genomics of Human Epilepsies (U01). Available at: http://grants.nih.gov/grants/guide/rfa-files/RFA-NS-11-007.html [Accessed March 1, 2012]
  • 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, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. (2009) Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 18:36263631.
  • EPGP. (2007) Epilepsy Phenome/Genome Project. Available at: http://www.epgp.org [Accessed March 1, 2012].
  • EPICURE. (2007) Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies. Available at: http://www.epicureproject.eu [Accessed March 1, 2012].
  • EPIGEN. (2008) EPIGEN, An international consortium dedicated to tackling epilepsy genetics. Available at: http://www.epilepsygenetics.eu/index.html [Accessed March 1, 2012].
  • Frost FD, Hrachovy RA. (2003) Infantile spasms. Kluwer Academic Publishers, Boston, MA.
  • Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, Clark PO, Capparelli EV, Adamson PC. (2010) Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med 362:790799.
  • Goldstein DB. (2009) Common genetic variation and human traits. N Engl J Med 360:16961698.
  • Greenberg DA, Cayanis E, Strug L, Marathe S, Durner M, Pal DK, Alvin GB, Klotz I, Dicker E, Shinnar S, Bromfield EB, Resor S, Cohen J, Moshe SL, Harden C, Kang H. (2005) Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 76:139146.
  • Guo Y, Baum LW, Sham PC, Wong V, Ng PW, Lui CH, Sin NC, Tsoi TH, Tang CS, Kwan JS, Yip BH, Xiao SM, Thomas GN, Lau YL, Yang W, Cherny SS, Kwan P. (2012) Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Hum Mol Genet 21:11841189.
  • Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciute D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kalviainen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Kramer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. (2010) Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86:707718.
  • Helbig I, Scheffer IE, Mulley JC, Berkovic SF. (2008) Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 7:231245.
  • 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, Moller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nurnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41:160162.
  • Hindorff LA, MacArthur J (European Bioinformatics Institute), Wise A, Junkins HA, Hall PN, Klemm AK, Manolio TA (n.d.). A catalog of published genome-wide association studies. Available at: http://www.genome.gov/GWAStudies/ [Accessed January 15, 2012].
  • Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. (2009) Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res 19:12701278.
  • Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S. (2009) A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. Brain Dev 31:2733.
  • Johnson MR, Milne RL, Torn-Broers Y, Hopper JL, Scheffer IE, Berkovic SF. (2003) A twin study of genetic influences on epilepsy outcome. Twin Res 6:140146.
  • Karakoc E, Alkan C, O’Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE. (2011) Detection of structural variants and indels within exome data. Nat Methods 9:176178.
  • Kasperaviciute D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, Tate SK, Jamnadas-Khoda J, Chinthapalli K, Clayton LM, Shianna KV, Radtke RA, Mikati MA, Gallentine WB, Husain AM, Alhusaini S, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Heuser K, Amos L, Ortega M, Zumsteg D, Wieser HG, Steinhoff BJ, Kramer G, Hansen J, Dorn T, Kantanen AM, Gjerstad L, Peuralinna T, Hernandez DG, Eriksson KJ, Kalviainen RK, Doherty CP, Wood NW, Pandolfo M, Duncan JS, Sander JW, Delanty N, Goldstein DB, Sisodiya SM. (2010) Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 133:21362147.
  • Kinirons P, Rabinowitz D, Gravel M, Long J, Winawer M, Senechal G, Ottman R, Cossette P. (2008) Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy. Epilepsy Res 82:2128.
  • Kjeldsen MJ, Corey LA, Christensen K, Friis ML. (2003) Epileptic seizures and syndromes in twins: the importance of genetic factors. Epilepsy Res 55:137146.
  • Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J. (2011) Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 145:10361048.
  • Layouni S, Buresi C, Thomas P, Malafosse A, Dogui M. (2010) BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. Neurol Sci 31:5356.
  • Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T. (2005) Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Epilepsia 46:16371641.
  • Leschziner G, Jorgensen AL, Andrew T, Pirmohamed M, Williamson PR, Marson AG, Coffey AJ, Middleditch C, Rogers J, Bentley DR, Chadwick DW, Balding DJ, Johnson MR. (2006) Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study. Lancet Neurol 5:668676.
  • Lohoff FW, Ferraro TN, Dahl JP, Hildebrandt MA, Scattergood TM, O’Connor MJ, Sperling MR, Dlugos DJ, Berrettini WH, Buono RJ. (2005) Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsy. Epilepsy Res 66:5962.
  • Lorenz S, Taylor KP, Gehrmann A, Becker T, Muhle H, Gresch M, Tauer U, Sander T, Stephani U. (2006) Association of BRD2 polymorphisms with photoparoxysmal response. Neurosci Lett 400:135139.
  • Manolio TA, Bailey-Wilson JE, Collins FS. (2006) Genes, environment and the value of prospective cohort studies. Nat Rev Genet 7:812820.
  • Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. (2009) Finding the missing heritability of complex diseases. Nature 461:747753.
  • Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF. (2004) Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia 45:467478.
  • Marson AG, Al-Kharusi AM, Alwaidh M, Appleton R, Baker GA, Chadwick DW, Cramp C, Cockerell OC, Cooper PN, Doughty J, Eaton B, Gamble C, Goulding PJ, Howell SJ, Hughes A, Jackson M, Jacoby A, Kellett M, Lawson GR, Leach JP, Nicolaides P, Roberts R, Shackley P, Shen J, Smith DF, Smith PE, Smith CT, Vanoli A, Williamson PR. (2007) The SANAD study of effectiveness of carbamazepine, gabapentin, lamotrigine, oxcarbazepine, or topiramate for treatment of partial epilepsy: an unblinded randomised controlled trial. Lancet 369:10001015.
  • Medvedev P, Fiume M, Dzamba M, Smith T, Brudno M. (2010) Detecting copy number variation with mated short reads. Genome Res 20:16131622.
  • Mefford HC, Mulley JC. (2010) Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Med 2:71.
  • Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6:e1000962.
  • Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE. (2011) Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 70:974985.
  • Michelucci R, Mecarelli O, Bovo G, Bisulli F, Testoni S, Striano P, Striano S, Tinuper P, Nobile C. (2007) A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. Neurology 68:21502151.
  • Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stutz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO. (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470:5965.
  • Mulley JC, Scheffer IE, Petrou S, Berkovic SF. (2003) Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol 16:171176.
  • Mulley JC, Scheffer IE, Harkin LA, Berkovic SF, Dibbens LM. (2005) Susceptibility genes for complex epilepsy. Hum Mol Genet 14 Spec No. 2:R243249.
  • Need AC, Goldstein DB. (2010) Whole genome association studies in complex diseases: where do we stand? Dialogues Clin Neurosci 12:3746.
  • Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. (2010a) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790793.
  • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. (2010b) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:3035.
  • Osborne JP, Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, Newton RW, Verity CM, O’Callaghan FJ. (2010) The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia 51:21682174.
  • Ottman R. (2005) Analysis of genetically complex epilepsies. Epilepsia 46(Suppl. 10):714.
  • Ottman R, Susser M. (1992) Data collection strategies in genetic epidemiology: The Epilepsy Family Study of Columbia University. J Clin Epidemiol 45:721727.
  • Ottman R, Annegers JF, Risch N, Hauser WA, Susser M. (1996a) Relations of genetic and environmental factors in the etiology of epilepsy. Ann Neurol 39:442449.
  • Ottman R, Lee JH, Risch N, Hauser WA, Susser M. (1996b) Clinical indicators of genetic susceptibility to epilepsy. Epilepsia 37:353361.
  • Ottman R, Berenson K, Barker-Cummings C. (2005) Recruitment of families for genetic studies of epilepsy. Epilepsia 46:290297.
  • Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, Serratosa J, Zara F, Scheffer IE. (2010) Genetic testing in the epilepsies – report of the ILAE Genetics Commission. Epilepsia 51:655670.
  • Paciorkowski AR, Thio LL, Dobyns WB. (2011a) Genetic and biologic classification of infantile spasms. Pediatr Neurol 45:355367.
  • Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. (2011b) Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet 19:12381245.
  • Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA. (2003) BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 73:261270.
  • Pelak K, Shianna KV, Ge D, Maia JM, Zhu M, Smith JP, Cirulli ET, Fellay J, Dickson SP, Gumbs CE, Heinzen EL, Need AC, Ruzzo EK, Singh A, Campbell CR, Hong LK, Lornsen KA, McKenzie AM, Sobreira NL, Hoover-Fong JE, Milner JD, Ottman R, Haynes BF, Goedert JJ, Goldstein DB. (2010) The characterization of twenty sequenced human genomes. PLoS Genet 6:e1001111.
  • Pericak-Vance MA, Bebout JL, Gaskell PC Jr, Yamaoka LH, Hung W-Y, Alberts MJ, Walker AP, Bartlett RJ, Haynes CA, Welsh KA, Earl NL, Heyman A, Clark CM, Roses AD. (1991) Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 48:10341050.
  • Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. (2000) A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 48:264267.
  • Poduri A, Lowenstein D. (2011) Epilepsy genetics – past, present, and future. Curr Opin Genet Dev 21:325332.
  • Prasad AN, Prasad C. (2008) Genetic influences on the risk for epilepsy. In Pellock JM, Bourgeois BFD, Dodson WE et al. (eds) Pediatric epilepsy. Demos, New York, pp. 117134.
  • Reid CA, Berkovic SF, Petrou S. (2009) Mechanisms of human inherited epilepsies. Prog Neurobiol 87:4157.
  • Risch N. (2001) Implications of multilocus inheritance for gene–disease association studies. Theor Popul Biol 60:215220.
  • Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. (2010) Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328:636639.
  • Rogawski MA, Johnson MR. (2008) Intrinsic severity as a determinant of antiepilepsy drug refractoriness. Epilepsy Curr 8:127130.
  • Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ, Hulette C, Crain B, Goldgaber D, Roses AD. (1993) Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer’s disease. Neurology 43:14671472.
  • Scheffer IE, Berkovic SF. (2010) Copy number variants – an unexpected risk factor for the idiopathic generalized epilepsies. Brain 133:78.
  • Sisodiya SM, Mefford HC. (2011) Genetic contribution to common epilepsies. Curr Opin Neurol 24:140145.
  • Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB. (2010) Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 6:e1000991.
  • Stenson PD. (2008). Human Gene Mutation Database. Avaialable at: http://www.hgmd.org [Accessed February 21, 2012].
  • Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. (2009) The Human Gene Mutation Database: 2008 update. Genome Med 1:13.
  • Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, 1000 Genomes Project, Eichler EE. (2010) Diversity of human copy number variation and multicopy genes. Science 330:641646.
  • Tan NC, Berkovic SF. (2010) The Epilepsy Genetic Association Database (epiGAD): analysis of 165 genetic association studies, 1996–2008. Epilepsia 51:686689.
  • Tomlinson IP, Bodmer WF. (1995) The HLA system and the analysis of multifactorial genetic disease. Trends Genet 11:493498.
  • Trevathan E, Murphy CC, Yeargin-Allsopp M. (1999) The descriptive epidemiology of infantile spasms among Atlanta children. Epilepsia 40:748751.
  • Vadlamudi L, Andermann E, Lombroso CT, Schachter SC, Milne RL, Hopper JL, Andermann F, Berkovic SF. (2004) Epilepsy in twins: insights from unique historical data of William Lennox. Neurology 62:11271133.
  • Veeramah KR, O’Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. (2012) De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 90:502510.
  • Yoon S, Xuan Z, Makarov V, Ye K, Sebat J. (2009) Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res 19:15861592.