• 1
    Lubs HA, Marker X chromosome. Am J Hum Genet 1969; 21: 23144.
  • 2
    Sutherland GR. Fragile site of human chromosome: demonstration of their dependence on the type of tissue culture medium. Science 1977; 197: 2656.
  • 3
    Opitz JM, Sutherland GR. Conference report: International Workshop on the Fragile X and X-linked Mental Retardation. Am J Med Genet 1984; 17: 594.
  • 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: 61328.
  • 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: 104758.
  • 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: 540814.
  • 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: 20712.
  • 8
    Harvey J, Judge C, Wiener S. Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet 1977; 11: 4650.
  • 9
    Bowen P, Biederman B, Swallow KA. The X-linked syndrome of macroorchidism and mental retardation: further observations. Am J Med Genet 1978; 2: 40914.
  • 10
    Larbrisseau A, Pierre J, Messier B, Richer CL. Fragile X chromosome and X-linked mental retardation. Can Med Assoc J 1982; 127: 1237.
  • 11
    Fryns JP. The fragile X syndrome: a study of 83 families. Clin Genet 1984; 26: 497528.
  • 12
    Partington MW. The fragile X syndrome II: preliminary data on growth and development in males. Am J Med Genet 1984; 17: 17599.
  • 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: 21126.
  • 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: 1503.
  • 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: 47680.
  • 16
    Arinami T, Sato M, Nakajima S, Kondo I. Auditory brain-stem responses in the fragile X syndrome. Am J Hum Genet 1988; 43: 4651.
  • 17
    Vieregge P, Froster-Iskenius U. Clinico-neurological investigations in the fra(X) form of mental retardation. J Neurol 1989; 236: 8592.
  • 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: 5113.
  • 19
    Ribacoba-Montero R, Salas-Puig J, Fernandez-Toral J, Fernandez-Martinez JM, MoralRato M. Fragile X syndrome and epilepsy. Neurologia 1995; 10: 705.
  • 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: 489501.
  • 21
    Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 50: 38999.
  • 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: HagermanRJ, McBoggPM, eds. The fragile X syndrome: diagnosis, biochemistry, and intervention. Dillon , CO : Spectra Publishing Company, 1983:5581.
  • 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: 14951.
  • 27
    Musumeci SA, Colognola RM, Ferri R, et al. Fragile X syndrome: a particular epileptogenic EEG pattern. Epilepsia 1988; 29: 417.
  • 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: 3658.
  • 29
    Kluger G, Böhm I, Laub MC, Waldenmaier C. Epilepsy and fragile X gene mutations. Pediatr Neurol 1996; 15: 35860.
  • 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: 41326.
  • 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: 4307.
  • 32
    Aicardi J. Benign epilepsy of childhood with rolandic spikes. In: AicardiJ, eds. Epilepsy in children. New York : Raven Press, 1986:11925.
  • 33
    Heijbel J, Blom S, Rasmuson M. Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study. Epilepsia 1975; 16: 28593.
  • 34
    Roger J, Bureau M. Les epilepsies partielles idiopathiques de l'enfant. Rev Neurol 1987; 1435: 38191.
  • 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: 2113.
  • 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: 315.
  • 37
    Ambrosetto G. Treatable partial epilepsy and unilateral opercular neuronal migration disorder. Epilepsia 1993; 34: 6048.
  • 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: 4429.
  • 39
    Gastaut H. A new type of epilepsy: benign partial epilepsy of childhood with occipital spike-wave. Clin Electroencephalogr 1982; 13: 1322.
  • 40
    DeMarco P, Tassinari CA. Extreme somatosensory evoked potential (ESEP): an EEG sign forecasting the possible occurrence of seizures in children. Epilepsia 1981; 22: 56975.
  • 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: 458.
  • 42
    Landau WM, Kleffner FR. Syndrome of acquired aphasia with convulsive disorder in children. Neurology 1957; 7: 52330.
  • 43
    Beaumanoir A, Nahory A. Les epilepsies benignes partielles: 11 cas d'epilepsie partielle frontale a evolution favorable. Rev EEG Neurophysiol 1983; 13: 20711.
  • 44
    Tassinari CA, Bureau M, Dravet C, Roger J, Daniele-Natale O. Electrical status epilepticus during sleep in children (ESES). In: StermanMB, ShouseMN, PassouantP, eds. Sleep and epilepsy. London : Academic Press, 1982:46579.
  • 45
    Doose H, Neubauer B, Carlsson G. Children with benign focal sharp waves in the EEG: developmental disorders and epilepsy. Neuropediatrics 1996; 27: 22741.
  • 46
    Doose H, Brigger-Heur B, Neubauer B. Children with focal sharp waves: clinical and genetic aspects. Epilepsia 1997; 38: 78896.
  • 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: 11418.
  • 48
    Desai HB, Donat JM, Shokeir MH, Munoz DG. Amyotrophic lateral sclerosis in a patient with fragile X syndrome. Neurology 1990; 40: 37880.
  • 49
    Rudelli RD, Brown WT, Wisniewski K, et al. Adult fragile X syndrome: clinico-neuropathological findings. Acta Neuropathol (Bert) 1985; 67: 28995.
  • 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: 28994.
  • 51
    Reiss AL, Lee J, Freund L. Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 1994; 44: 131724.
  • 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: 54014.
  • 53
    Musumeci SA, Ferri R, Elia M, et al. Sleep neurophysiology in fragile X patients. Dev Brain Dysfunct 1995; 8: 21822.
  • 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: 15564.