Epilepsy and EEG findings in males with fragile X syndrome

Epilepsia

Volumn 40, Issue 8, 1999, Pages 1092-1099

  Musumeci, S A ^a   Hagerman, R J ^b   Ferri, R ^a   Bosco, P ^a   Dalla Bernardina, B ^c   Tassinari, C A ^d   De Sarro, G B ^e   Elia, M ^a  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

^b CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF VERONA   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

Centrotemporal spikes; EEG; Epilepsy; FMR 1 gene; Fragile X syndrome

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; PHENOBARBITAL; PROTEIN; VALPROIC ACID;

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; FRAGILE X SYNDROME; FRONTAL LOBE; GENE; GENETIC MODEL; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEUROPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPIKE; TEMPORAL LOBE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPSY, FRONTAL LOBE; EPILEPSY, TEMPORAL LOBE; FOLLOW-UP STUDIES; FRAGILE X SYNDROME; HUMANS; INFANT; INTELLIGENCE TESTS; MALE; MIDDLE AGED; MODELS, GENETIC; PROSPECTIVE STUDIES; RETROSPECTIVE STUDIES; SEIZURES; SEX FACTORS;

EID: 0032773639     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1528-1157.1999.tb00824.x     Document Type: Article

References (54)

1. Lubs HA, Marker X chromosome. Am J Hum Genet 1969;21:231-44.
2. Sutherland GR. Fragile site of human chromosome: demonstration of their dependence on the type of tissue culture medium. Science 1977;197:265-6.
3. Opitz JM, Sutherland GR. Conference report: International Workshop on the Fragile X and X-linked Mental Retardation. Am J Med Genet 1984;17:5-94.
4. Neri G, Opitz JM, Mikkelsen M, Jacobs PA, Davies K, Turner G. Conference report: Third International Workshop on the Fragile X and X-linked Mental Retardation. Am J Med Genet 1988;30:61-328.
5. Fu YH, Kuhl DPA, Pizzuti A, et al. Variation of the CGG Repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-58.
6. Fridell RA, Benson RE, Hua J, Bogard HP, Cullen BR. A nuclear role for the fragile X mental retardation protein. EMBO J 1996; 15:5408-14.
7. Musumeci SA, Ferri R, Colognola RM, Neri G, Sanfilippo S, Bergonzi P. Prevalence of a novel epileptogenic EEG pattern in the Martin: Bell syndrome. Am J Med Genet 1988;30:207-12.
8. Harvey J, Judge C, Wiener S. Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet 1977;11:46-50.
9. Bowen P, Biederman B, Swallow KA. The X-linked syndrome of macroorchidism and mental retardation: further observations. Am J Med Genet 1978;2:409-14.
10. Larbrisseau A, Pierre J, Messier B, Richer CL. Fragile X chromosome and X-linked mental retardation. Can Med Assoc J 1982;127:123-7.
11. Fryns JP. The fragile X syndrome: a study of 83 families. Clin Genet 1984;26:497-528.
12. Partington MW. The fragile X syndrome II: preliminary data on growth and development in males. Am J Med Genet 1984;17:175-99.
13. Brondum-Nielsen K. Diagnosis of the fragile X syndrome (Martin-Bell syndrome): clinical findings in 27 males with the fragile site at Xq28. J Ment Defic Res 1983;27:211-26.
14. Finelli P, Pueschel SM, Padre-Mendoza T, O'Brien MM. Neurological findings in patients with the fragile-X syndrome. J Neurol Neurosurg Psychiatry 1985;48:150-3.
15. Wisniewski KE, Segan SM, Miezejeski CM, Sersen EA, Rudelli RD. The fra(X) syndrome: neurological, electrophysiological, and neuropathological abnormalities. Am J Med Genet 1991;38:476-80.
16. Arinami T, Sato M, Nakajima S, Kondo I. Auditory brain-stem responses in the fragile X syndrome. Am J Hum Genet 1988;43: 46-51.
17. Vieregge P, Froster-Iskenius U. Clinico-neurological investigations in the fra(X) form of mental retardation. J Neurol 1989;236: 85-92.
18. Musumeci SA, Ferri R, Elia M, Colognola RM, Bergonzi P, Tassinari CA. Epilepsy and fragile X syndrome: a follow-up study. Am J Med Genet 1991;38:511-3.
19. Ribacoba-Montero R, Salas-Puig J, Fernandez-Toral J, Fernandez-Martinez JM, MoralRato M. Fragile X syndrome and epilepsy. Neurologia 1995;10:70-5.
20. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981;22:489-501.
21. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;50:389-99.
22. Kaufman AS, Faufman NS. Kaufman assessment battery for children. Circle Pines, MN: Am Guidance Service, 1983.
23. Wechsler D. Wechsler intelligence scale for children-revised. New York: The Psychological Corporation, 1973.
24. Terman L, Merrill M. Stanford-Binet intelligence scale: manual for the third revision, Form L-M. Boston: Houghton Mifflin Company, 1973.
25. McGavran L, Maxwell F. Cytogenetic aspects of the fragile X syndrome. In: Hagerman RJ, McBogg PM, eds. The fragile X syndrome: diagnosis, biochemistry, and intervention. Dillon, CO: Spectra Publishing Company, 1983:55-81.
26. Bosco P, Ferri R, Call F, et al. Analysis of the FMR-1 gene and correlation with phenotype in Sicilian families with the fragile X syndrome. Bull Mol Biol Med 1995;20:149-51.
27. Musumeci SA, Colognola RM, Ferri R, et al. Fragile X syndrome: a particular epileptogenic EEG pattern. Epilepsia 1988;29:41-7.
28. Musumeci SA, Elia M, Ferri R, Scuderi S, Del Gracco S. Evoked spikes and giant somatosensory evoked potentials in a patient with fragile-X syndrome. Ital J Neurol Sci 1994;15:365-8.
29. Kluger G, Böhm I, Laub MC, Waldenmaier C. Epilepsy and fragile X gene mutations. Pediatr Neurol 1996;15:358-60.
30. Ferri R, Musumeci SA, Elia M, Del Gracco S, Scuderi S, Bergonzi P. Bit-mapped somatosensory evoked potentials in the fragile X syndrome. Neurophysiol Clin 1995;24:413-26.
31. Bouma PAD, Bovenkerk AC, Westendorp RGJ, Brouwer OF. The course of benign partial epilepsy of childhood with centrotemporal spikes: a meta-analysis. Neurology 1997;48:430-7.
32. Aicardi J. Benign epilepsy of childhood with rolandic spikes. In: Aicardi J, ed. Epilepsy in children. New York: Raven Press, 1986: 119-25.
33. Heijbel J, Blom S, Rasmuson M. Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study. Epilepsia 1975;16: 285-93.
34. Roger J, Bureau M. Les epilepsies partielles idiopathiques de l'enfant. Rev Neurol 1987;1435:381-91.
35. Rees M, Diebold U, Parker K, Doose H, Gardiner RM, Whitehouse DP. Benign childhood epilepsy with centrotemporal spikes and the focal wave trait is not linked to the fragile X region. Neuropediatrics 1993;24:211-3.
36. Shevell MI, Rosemblatt B, Watters GV. O'Gorian AM, Montes JL. "Pseudo-BECRS": intracranial focal lesions suggestive of a primary partial epilepsy syndrome. Pediatr Neurol 1996;14:31-5.
37. Ambrosetto G. Treatable partial epilepsy and unilateral opercular neuronal migration disorder. Epilepsia 1993;34:604-8.
38. Ottman R, Annegers JF, Risch N, Hauser WA, Susser M. Relations of genetic and environmental factors in the etiology of epilepsy. Ann Neurol 1996;39:442-9.
39. Gastaut H. A new type of epilepsy: benign partial epilepsy of childhood with occipital spike-wave. Clin Electroencephalogr 1982;13:13-22.
40. DeMarco P, Tassinari CA. Extreme somatosensory evoked potential (ESEP): an EEG sign forecasting the possible occurrence of seizures in children. Epilepsia 1981;22:569-75.
41. Plasmati R, Michelucci R, Forti A, et al. The neurophysiological features of the benign partial epilepsy with rolandic spikes. Epilepsy Res Suppl 1992;6:45-8.
42. Landau WM, Kleffner FR. Syndrome of acquired aphasia with convulsive disorder in children. Neurology 1957;7:523-30.
43. Beaumanoir A, Nahory A. Les epilepsies benignes partielles: 11 cas d'epilepsie partielle frontale a evolution favorable. Rev EEG Neurophysiol 1983;13:207-11.
44. Tassinari CA, Bureau M, Dravet C, Roger J, Daniele-Natale O. Electrical status epilepticus during sleep in children (ESES). In: Sterman MB, Shouse MN, Passouant P, eds. Sleep and epilepsy. London: Academic Press, 1982:465-79.
45. Doose H, Neubauer B, Carlsson G. Children with benign focal sharp waves in the EEG: developmental disorders and epilepsy. Neuropediatrics 1996;27:227-41.
46. Doose H, Brigger-Heur B, Neubauer B. Children with focal sharp waves: clinical and genetic aspects. Epilepsia 1997;38:788-96.
47. Mazzocco MMM, Hagerman RJ, Cronister A, Silverman MA, Pennington BF. Specific frontal lobe deficits among women with the fragile X gene. J Am Acad Child Adolesc Psychiatry 1992;31: 1141-8.
48. Desai HB, Donat JM, Shokeir MH, Munoz DG. Amyotrophic lateral sclerosis in a patient with fragile X syndrome. Neurology 1990;40:378-80.
49. Rudelli RD, Brown WT, Wisniewski K, et al. Adult fragile X syndrome: clinico-neuropathological findings. Acta Neuropathol (Berl) 1985;67:289-95.
50. Hinton VJ, Brown WT, Wisniewski K, Rudelli RD. Analysis of neocortex in three males with the fragile X syndrome. Am J Med Genet 1991;41:289-94.
51. Reiss AL, Lee J, Freund L. Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 1994;44:1317-24.
52. Comery TA, Harris JB, Willems PJ, et al. Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci USA 1997;94:5401-4.
53. Musumeci SA, Ferri R, Elia M, et al. Sleep neurophysiology in fragile X patients. Dev Brain Dysfunct 1995;8:218-22.
54. Hagerman RJ, Fulton MJ, Leaman A, Riddle J, Hagerman K, Sobesky Y. A survey of fluoxetine therapy in fragile X syndrome. Dev Brain Dysfunct 1994;7:155-64.