Chromosome 18 aberrations and epilepsy: A review

American Journal of Medical Genetics

Volumn 134 A, Issue 1, 2005, Pages 88-94

  Grosso, S ^a   Pucci, L ^a   Di Bartolo, R M ^a   Gobbi, G ^b   Bartalini, G ^a   Anichini, C ^a   Scarinci, R ^a   Balestri, M ^a   Farnetani, M A ^a   Cioni, M ^a   Morgese, G ^a   Balestri, P ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b MAGGIORE HOSPITAL   (Italy)

Author keywords

Chromosomal aberrations; Chromosomal rearrangement; Chromosome 18; Epilepsy; Mental retardation; Seizures

Indexed keywords

CHILD; CHROMOSOME 18; CHROMOSOME ABERRATION; CHROMOSOME DELETION 18P; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENE DELETION; GENE LOCATION; HAPLOTYPE; HUMAN; KARYOTYPE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; REVIEW; SEIZURE; TRISOMY 18; TRISOMY 18P;

ADOLESCENT; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 18; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; KARYOTYPING; MALE; REVIEW LITERATURE; SYNDROME; TRANSLOCATION, GENETIC; TRISOMY;

EID: 20144368519     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30575     Document Type: Review

References (41)

1. Alkan M, Ramelli GP, Hirsiger H, Keser I, Remonda L, Buhler EM, Moser H. 2002. Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation. Genet Couns 13:151-156.
2. Bal M, Schrander-Stumpel CT, Meers LE, Theunissen PM, Hamers AJ, Wennekes MJ, Engelen JJ. 2000. De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism. Genet Couns 11:221-227.
3. Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G. 1997. The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 48:1081-1086.
4. Baulac S, Picard F, Herman A, Feingold J, Genin E, Hirsch E, Prud'homme JF, Baulac M, Brice A, LeGuern E. 2001. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 49:786-792.
5. Boyd SG, Harden A, Patton MA. 1988. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 147:508-513.
6. Buoni S, Grosso S, Pucci L, Fois A. 1999. Diagnosis of Angelman syndrome: Clinical and EEG criteria. Brain Dev 21:296-302.
7. Canevini MP, Sgro V, Zuffardi O, Ganger R, Carrozzo R, Rossi E, Ledbetter D, Minicucci F, Vignoli A, Piazzini A, Guidolin L, Saltarelli A, dalla Bernardina B. 1998. Chromosome 20 ring: A chromosomal disorder associated with a particular electroclinical pattern. Epilepsia 39:942-951.
8. Commission on classification and terminology of the International League Against Epilepsy, 1981. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 22:489-501.
9. Commission on classification and terminology of the International League Against Epilepsy, 1989. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389-399.
10. Elia M, Musumeci SA, Ferri R, Ayala GF. 2001. Chromosome abnormalities and epilepsy. Epilepsia 42:24-27.
11. Faed MJ, Whyte R, Paterson CR, McCathie M, Robertson J. 1972. Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult. J Med Genet 9:102-105.
12. Faulkner KW, Holmes LB, Steinfeld A, Abroms IF. 1983. A child with 18q-syndrome and cerebellar astrocytoma. J Pediatr 103:600-602.
13. Felding I, Kristoffersson U, Sjostrom H, Noren O. 1987. Contribution to the 18q-syndrome. A patient with del(18) (q22.3qter). Clin Genet 31:206-210.
14. Gabrielli O, Coppa GV, Carloni I, Salvolini U. 1998. 18q-syndrome and white matter alterations. AJNR Am J Neuroradiol 19:398-399.
15. Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Cornell JE, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. 1997. Magnetic resonance imaging demonstrates incomplete myelination in 18q-syndrome: Evidence for myelin basic protein haploinsufficiency. Am J Med Genet 74:422-431.
16. Gobbi G, Genton P, Pini A, Gurrieri F, Livet MO. 2002. Epilepsies and chromosomal disorders. In: Roger J, Bureau M, Dravet Ch, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood, and adolescence. 3rd edition. Eastleigh (UK): John Libbey Ltd. pp 431-455.
17. Grosso S, Di Bartolo RM, Farnetani MA, Pucci L, Bartalini C, Anichini C, Mostardini R, Galimberti D, Morgese G, Balestri P. 2004a. Electroencephalographic and epileptic patterns in X chromosome anomalies. J Clin Neurophysiol 21:249-253.
18. Grosso S, Farnetani MA, Pucci L, Galimberti D, Di Bartolo RM, Anichini C, Mostardini R, Balestri M, Morgese G, Balestri P. 2004b. Epilepsy and EEG findings in pericentric inversion of chromosome 12. J Child Neurol 19:604-608.
19. Guerrini R, Bureau M, Mattei MG, Battaglia A, Galland MC, Roger J. 1990. Trisomy 12p syndrome: A chromosomal disorder associated with generalized 3-Hz spike and wave discharges. Epilepsia 31:557-566.
20. Gustavsson P, Kimber E, Wahlstrom J, Anneren G. 1999. Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). Am J Med Genet 82:348-351.
21. Johansson B, Mertens F, Palm L, Englesson I, Kristoffersson U. 1988. Duplication 18p with mild influence on the phenotype. Am J Med Genet 29:871-874.
22. Kanazawa O, Naruto T, Irie N, Kawai I, Takagi R. 1989. A case of 18 q-syndrome associated with status epilepticus. No To Hattatsu 21:470-474 [Japanese].
23. Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J. 1993. Molecular analysis of the 18q-syndrome and correlation with phenotype. Am J Hum Genet 52:895-906.
24. Kumada T, Ito M, Miyajima T, Fujii T, Okuno T, Kumakura A. 2003. Intractable epilepsy (apneic seizure) in an infant with 18q deletion sindrome. No To Hattatsu 35:521-526 [Japanese].
25. Linnankivi TT, Autti TH, Pihko SH, Somer MS, Tienari PJ, Wirtavuori KO, Valanne LK. 2003. 18q-syndrome: Brain MRI shows poor differentiation of gray and white matter on T2-weighted images. J Magn Reson Imaging 18:414-419.
26. Loevner LA, Shapiro RM, Grossman RI, Overhauser J, Kamholz J. 1996. White matter changes associated with deletions of the long arm of chromosome 18 (18q-syndrome): A dysmyelinating disorder? AJNR Am J Neuroradiol 17:1843-1848.
27. Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, Raven EJ, Hamers AJ. 1994. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet 46:423-429.
28. Novotny EJ Jr, Urich H. 1987. The brain in partial trisomy 18: A case report. J Child Neurol 2:194-197.
29. Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E, Yoshinaga H, Sato M. 1993. Prenatal etiologies of West syndrome. Epilepsia 34:716-722.
30. Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, Rappold G, Robson L, Smith A. 2000. Mosaic rearrangement of chromosome 18: Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. Am J Med Genet 92:101-106.
31. Rao VB, Kerketta L, Korgaonkar S, Ghosh K, Mohanty D. 2001. 18p deletion syndrome with a 45, XY, t(14; 18) (p11;q11.2), -18, karyotype. Ann Genet 44:187-190.
32. Schinzel A, Niedrist D. 2001. Chromosome imbalances associated with epilepsy. Am J Med Genet "Semin Med Genet" 106:119-124.
33. Schinzel A, Binkert F, Lillington DM, Sands M, Stocks RJ, Lindenbaum RH, Matthews H, Sheridan H. 1991. Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): A report of three cases of an autosomal deletion with a mild phenotype. J Med Genet 28:352-355.
34. Singh R, Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF. 2002. Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters. Epilepsia 43:127-140.
35. Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. 1995. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 59:476-483.
36. Sturm K, Knake S, Schomburg U, Wakat JP, Hamer HM, Fritz B, Oertel WH, Rosenow F. 2000. Autonomic seizures versus syncope in 18q-deletion syndrome: A case report. Epilepsia 41(8):1039-1043.
37. Vaquerizo J, Gomez Martin H, Galan E, Cardesa JJ. 1995. Infantile spasms in a patient with 18p monosomy. Rev Neurol 23:453-454 [Spanish].
38. Verrotti A, Trotta D, Salladini C, Di Corcia G, Chiarelli F. 2003. Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome. Childs Nerv Syst 23:1-7.
39. Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. 1991. Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Ann Neurol 30:419-423.
40. Wertelecki W, Gerald PS. 1971. Clinical and chromosomal studies of the 18q-syndrome. J Pediatr 78:44-52.
41. Wilson Mg, Towner JW, Foreman I, Siris E. 1979. Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am J Med Genet 3:155-174.