Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

European Journal of Human Genetics

Volumn 17, Issue 9, 2009, Pages 1171-1181

  Strug, Lisa J ^a,b   Clarke, Tara ^c   Chiang, Theodore ^a   Chien, Minchen ^d,e   Baskurt, Zeynep ^a   Li, Weili ^a   Dorfman, Ruslan ^a   Bali, Bhavna ^c   Wirrell, Elaine ^f   Kugler, Steven L ^g   Mandelbaum, David E ^h   Wolf, Steven M ⁱ   McGoldrick, Patricia ⁱ   Hardison, Huntley ^j   Novotny, Edward J ^k   Ju, Jingyue ^d,e   Greenberg, David A ^c,l   Russo, James J ^d,e   Pal, Deb K ^c,e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c Columbia University Medical Center ^*  (United States)

^d The Judith P Sulzberger MD Columbia Genome Center ^*  (United States)

^e NewYork Presbyterian Hospital   (United States)

^f UNIVERSITY OF CALGARY   (Canada)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h BROWN UNIVERSITY   (United States)

ⁱ BETH ISRAEL MEDICAL CENTER   (United States)

^j ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^k YALE UNIVERSITY MEDICAL CENTER   (United States)

^l NEW YORK STATE PSYCHIATRIC INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ELONGATOR PROTEIN COMPLEX 4; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL MIGRATION; CELL MOTILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; ELECTROENCEPHALOGRAPHY; EXON; FEMALE; GENE FREQUENCY; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; INTRON; LINKAGE ANALYSIS; MALE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEPLETION; ROLANDIC EPILEPSY; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY, ROLANDIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TEMPORAL LOBE;

EID: 69249246953     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.267     Document Type: Article

References (46)

1. Shinnar S, O'Dell C, Berg AT: Distribution of epilepsy syndromes in a cohort of children prospectively monitored from the time of their first unprovoked seizure. Epilepsia 1999; 40: 1378-1383.
2. Beaussart M: Benign epilepsy of children with Rolandic (centro-temporal) paroxysmal foci: A clinical entity. Study of 221 cases. Epilepsia 1972; 13: 795-811.
3. Clarke T, Strug LJ, Murphy PL et al: High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study. Epilepsia 2007; 48: 2258-2265.
4. Kavros PM, Clarke T, Strug LJ, Halperin JM, Dorta NJ, Pal DK: Attention impairment in rolandic epilepsy: Systematic review. Epilepsia 2008; 49: 1570-1580.
5. Boxerman J, Hawash K, Bali B, Clarke T, Rogg J, Pal DK: Is Rolandic epilepsy associated with abnormalities on cranial MRI? Epilepsy Res 2007; 75: 180-185.
6. Eeg-Olofsson O, Petersen I, Sellden U: The development of the electroencephalogram in normal children from the age of 1 through 15 years. Paroxysmal activity. Neuropadiatrie 1971; 2: 375-404.
7. Echenne B, Cheminal R, Rivier F, Negre C, Touchon J, Billiard M: Epileptic electroencephalographic abnormalities and developmental dysphasias: A study of 32 patients. Brain Dev 1992; 14: 216-225.
8. Holtmann M, Becker K, Kentner-Figura B, Schmidt MH: Increased frequency of rolandic spikes in ADHD children. Epilepsia 2003; 44: 1241-1244.
9. Scabar A, Devescovi R, Blason L, Bravar L, Carrozzi M: Comorbidity of DCD and SLI: Significance of epileptiform activity during sleep. Child Care Health Dev 2006; 32: 733-739.
10. Doose H, Neubauer B, Carlsson G: Children with benign focal sharp waves in the EEG - developmental disorders and epilepsy. Neuropediatrics 1996; 27: 227-241.
11. Heijbel J, Blom S, Rasmuson M: Benign epilepsy of childhood with centrotemporal EEG foci: A genetic study. Epilepsia 1975; 16 285-293.
12. Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF: Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation. Ann Neurol 1995; 38: 633-642.
13. Guerrini R, Bonanni P, Nardocci N et al: Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999; 45: 344-352.
14. Roll P, Rudolf G, Pereira S et al: SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006; 15: 1195-1207.
15. Kugler SL, Bali B, Lieberman P et al: An autosomal dominant genetically heterogeneous variant of rolandic epilepsy. Epilepsia 2008; 49: 1086-1090.
16. Bali B, Kull L, Strug L et al: Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families. Epilepsia 2007; 48: 2266-2272.
17. Neubauer BA, Fiedler B, Himmelein B et al: Centrotemporal spikes in families with rolandic epilepsy: Linkage to chromosome 15q14. Neurology 1998; 51: 1608-1612.
18. Royall RM: Statistical Evidence: A Likelihood Paradigm. London: Chapman and Hall, 1997.
19. Blume JD: Tutorial inLbiostatistics: likelihood methods for measuring statistical evidence. Stat Med 2002; 21: 2563-2599.
20. Strug LJ, Hodge SE: An alternative foundation for the planning and evaluation of linkage analysis. I. Decoupling 'error probabilities' from 'measures of evidence'. Hum Hered 2006; 61: 166-188.
21. Strug LJ, Rohde CA, Corey PN: An introduction to evidential sample size calculations. Am Stat 2007; 61: 207-212.
22. Commission on classification and terminology of the international league against epilepsy: Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389-399.
23. Hodge SE, Abreu P, Greenberg DA: Magnitude of type I error when single-locus linkage analysis is maximized over models: A simulation study. Am J Hum Genet 1997; 60: 217-227.
24. Abreu PC, Hodge SE, Greenberg DA: Quantification of type i error probabilities for heterogeneity LOD scores. Genet Epidemiol 2002; 22: 159-169.
25. Pal DK, Durner M, Greenberg DA: Effect of misspecification of gene frequency on the two-point lod score. Am J Hum Genet 2001; 9 855-859.
26. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
27. Daw EW, Thompson EA, Wijsman EM: Bias in multipoint linkage analysis arising from map misspecification. Genet Epidemiol 2000; 19: 366-380.
28. BarreAt JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21 263-265.
29. Strug LJ, Hodge SE: An alternative foundation for the planning and evaluation of linkage analysis. II. Implications for multiple test adjustments. Hum Hered 2006; 61: 200-209.
30. Benjamini Y, Hochberg Y: ControlAing the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc B 1995; 57: 289-300.
31. Laird NM, Horvath S, Xu X: Implementing a unified approach to family-based tests of association. Genet Epidemiol 2000; 19 (Suppl 1): S36-S42.
32. Lindsey JK: Parametric Statistical Inference. Oxford: Clarendon Press, 1996.
33. Kong A, Gudbjartsson DF, Sainz J et al: A high-resolution recombination map of the human genome. Nat Genet 2002; 31: 241-247.
34. Vieland VJ, Hodge SE: ReviAw of statistical evidence: a likelihood paradigm by Royall, R. Am J Hum Genet 1998; 63: 283-289.
35. Clayton D, Chapman J, Cooper J: Use of unphased multilocus genotype data in indirect association studies. Genet Epidemiol 2004; 27: 415-428.
36. Otero G, Fellows J, Li Y et al: Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation. Mol Cell 1999; 3: 109-118.
37. Svejstrup JQ:HElongator complex: how many roles does it play? Curr Opin Cell Biol 2007; 19: 331-336.
38. Krogan NJ, Greenblatt JF: Characterization of a six-subunit holo-elongator complex required for the regulated expression of a group of genes in Saccharomyces cerevisiae. Mol Cell Biol 2001; 21 8203-8212.
39. Esberg A, Huang B, Johansson MJ, Bystrom AS: Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis. Mol Cell 2006; 24: 139-148.
40. Close P, Hawkes N, Cornez I et al: Transcription impairment and cell migration defects in elongator-depleted cells: Implication for familial dysautonomia. Mol Cell 2006; 22: 521-531.
41. Niedermeyer E, McKusick VA, Brunt P, Mahloudji M: The EEG in familial dysautonomia (Riley-Day syndrome). Electroencephalogr Clin Neurophysiol 1967; 22: 473-475.
42. Anderson SL, Coli R, Daly IW et al: Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001; 68 753-758.
43. Slaugenhaupt SA, Blumenfeld A, Gill SP et al: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68: 598-605.
44. Mezey E, ParmWlee A, Szalayova I et al: Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? Brain Res 2003; 983: 209-214.
45. Griffin C, Kleinjan DA, Doe B, van Heyningen V: New 3′ elements control Pax6 expression in the developing pretectum, neural retina and olfactory region. Mech Dev 2002; 112: 89-100.
46. Royall RM: On the probability of observing misleading statistical evidence (with discussion). J Am Stat Assoc 2000; 95: 760-780.