Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis

Epilepsy Research

Volumn 89, Issue 2-3, 2010, Pages 286-294

  de Kovel, C G F ^a   Pinto, D ^b,c   Tauer, U ^l   Lorenz, S ^j,q   Muhle, H ^h   Leu, C ^d   Neubauer, B A ^f   Hempelmann, A ^j   Callenbach, P M C ^k   Scheffer, I E ^g   Berkovic, S F ^g   Rudolf, G ⁱ   Striano, P ^p   Siren, A ^m   Baykan, B ^n,o   Sander, T ^d,e,j   Lindhout, D ^a   Trenité, D G Kasteleijn Nolst ^a   Stephani, U ^h   Koeleman, B P C ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF COLOGNE   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f JUSTUS LIEBIG UNIVERSITY   (Germany)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h UNIVERSITY OF KIEL   (Germany)

ⁱ UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^j MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^k UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^l Kinderklinik Schwabing   (Germany)

^m UNIVERSITY OF HELSINKI   (Finland)

ⁿ ISTANBUL UNIVERSITY   (Turkey)

^o ISTANBUL UNIVERSITY   (Turkey)

^p G GASLINI INSTITUTE   (Italy)

^q NORWEGIAN UNIVERSITY OF LIFE SCIENCES   (Norway)

more..

Author keywords

Genome wide linkage; Idiopathic generalised epilepsy; Mega analysis; Photoparoxysmal response; Photosensitivity

Indexed keywords

ARTICLE; CHROMOSOME 16; CHROMOSOME 5; CHROMOSOME 8; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; PHENOTYPE; PHOTOSENSITIVITY; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 8; EPILEPSY, REFLEX; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; LINKAGE (GENETICS); MALE;

EID: 77951296253     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2010.01.013     Document Type: Article

References (28)

1. Abecasis G.R., Cherny S.S., Cookson W.O., Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 2002, 30(1):97-101.
2. Berkovic S.F., Howell R.A., Hay D.A., Hopper J.L. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann. Neurol. 1998, 43(4):435-445.
3. Briellmann R.S., Torn-Broers Y., Berkovic S.F. Idiopathic generalized epilepsies: do sporadic and familial cases differ?. Epilepsia 2001, 42(11):1399-1402.
4. Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.M., Carmant L., Verner A., Lu W.Y., et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 2002, 31(2):184-189.
5. Cottingham R.W., Idury R.M., Schaffer A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 1993, 53(1):252-263.
6. Doose H., Gerken H. On the genetics of EEG-anomalies in childhood IV. Photoconvulsive reaction. Neuropädiatrie 1973, 4(2):162-171.
7. Doose H., Gerken H., Hien-Volpel K.F., Volzke E. Genetics of photosensitive epilepsy. Neuropadiatrie 1969, 1(1):56-73.
8. Doose H., Waltz S. Photosensitivity-genetics and clinical significance. Neuropediatrics 1993, 24(5):249-255.
9. Durner M., Zhou G., Fu D., Abreu P., Shinnar S., Resor S.R., Moshe S.L., Rosenbaum D., Cohen J., Harden C., et al. Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity. Am. J. Hum. Genet. 1999, 64(5):1411-1419.
10. Guerrini R., Genton P. Epileptic syndromes and visually induced seizures. Epilepsia 2004, 45(Suppl. 1):14-18.
11. Hempelmann A., Taylor K.P., Heils A., Lorenz S., Prud'Homme J.F., Nabbout R., Dulac O., Rudolf G., Zara F., Bianchi A., et al. Exploration of the genetic architecture of idiopathic generalized epilepsies. Epilepsia 2006, 47(10):1682-1690.
12. Jallon P., Latour P. Epidemiology of idiopathic generalized epilepsies. Epilepsia 2005, 46(Suppl. 9):10-14.
13. Kasteleijn-Nolst Trenité D.G.A., Pinto D., Hirsch E., Takahashi T. Photosensitivity, visual induced seizures and epileptic syndromes. Epileptic Syndromes in Infancy, Childhood and Adolescence 2005, 395-420. John Libbey Eurotext.
14. Kong A., Cox N.J. Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet. 1997, 61(5):1179-1188.
15. Lorenz S., Taylor K.P., Gehrmann A., Becker T., Muhle H., Gresch M., Tauer U., Sander T., Stephani U. Association of BRD2 polymorphisms with photoparoxysmal response. Neurosci. Lett. 2006, 400(1-2):135-139.
16. Miller L.L., Pellock J.M., Boggs J.G., DeLorenzo R.J., Meyer J.M., Corey L.A. Epilepsy and seizure occurrence in a population-based sample of Virginian twins and their families. Epilepsy Res. 1999, 34(2-3):135-143.
17. Newmark M.E., Kiffin Penry J. Photosensitivity and Epilepsy: A Review. Raven Press, New York 1979.
18. Nordli D.R. Idiopathic generalized epilepsies recognized by the International League Against Epilepsy. Epilepsia 2005, 46(Suppl. 9):48-56.
19. Pinto D., Trenite D., Cordell H.J., Mattheisen M., Strauch K., Lindhout D., Koeleman B.P.C. Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci. Genet. Epidemiol. 2007, 31(1):42-50.
20. Pinto D., Trenite DGAKN, Cordell H.J., Mattheisen M., Strauch K., Lindhout D., Koeleman B.P.C. Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci. Genet. Epidemiol. 2007, 31(1):42-50.
21. Pinto D., Westland B., de Haan G.J., Rudolf G., da Silva B.M., Hirsch E., Lindhout D., Trenite D., Koeleman B.P.C. Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13. Hum. Mol. Genet. 2005, 14(1):171-178.
22. Sander T., Schulz H., Saar K., Gennaro E., Riggio M.C., Bianchi A., Zara F., Luna D., Bulteau C., Kaminska A., et al. Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum. Mol. Genet. 2000, 9(10):1465-1472.
23. Schaffer A.A., Gupta S.K., Shriram K., Cottingham R.W. Avoiding recomputation in linkage analysis. Hum. Hered. 1994, 44(4):225-237.
24. Tan N.C., Mulley J.C., Scheffer I.E. Genetic dissection of the common epilepsies. Curr. Opin. Neurol. 2006, 19(2):157-163.
25. Tauer U., Lorenz S., Lenzen K.P., Heils A., Muhle H., Gresch M., Neubauer B.A., Waltz S., Rudolf G., Mattheisen M., et al. Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann. Neurol. 2005, 57(6):866-873.
26. Waltz S., Christen H.J., Doose H. The different patterns of the photoparoxysmal response - a genetic study. Electroencephalogr. Clin. Neurophysiol. 1992, 83(2):138-145.
27. Waltz S., Stephani U. Inheritance of photosensitivity. Neuropediatrics 2000, 31(2):82-85.
28. Wolf P., Goosses R. Relation of photosensitivity to epileptic syndromes. J. Neurol. Neurosurg. Psychiatry 1986, 49(12):1386-1391.