Epilepsy and fragile X gene mutations

Pediatric Neurology

Volumn 15, Issue 4, 1996, Pages 358-360

  Kluger, Gerhard ^a   Böhm, Ingolf ^b   Laub, Michael C ^a   Waldenmaier, Claus ^b  

^a Neuropediatric Department   (Germany)

^b Diagnostic Laboratory   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CLINICAL ARTICLE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FOCAL EPILEPSY; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; EVOKED POTENTIALS; FEMALE; FRAGILE X SYNDROME; HUMANS; MALE; MENTAL RETARDATION; NEUROPSYCHOLOGICAL TESTS; POLYSOMNOGRAPHY;

EID: 0030297970     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(96)00251-2     Document Type: Article

References (14)

1. [1] Rousseau F, Heitz D, Tarleton J, et al. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet 1994;55:225-37.
2. [2] Hull C, Hagerman MD. A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. Am J Develop Child Dis 1993;147:1236-41.
3. [3] Loesch DZ, Hay DA, Mulley J. Transmitting males and carrier females in fragile X-revisited. Am J Med Genet 1994;51:392-9.
4. [4] Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H. Neurobehavioural effects of the fragile X premutation in adult women: A controlled study. Am J Hum Genet 1993;52:884-94.
5. [5] 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.
6. [6] Sanfilippo S, Ragusa RM, Musumeci SA, Neri G. Fragile X mental retardation: Prevalence in a group of institutionalized patients in Italy and description of a novel EEG pattern. Am J Med Genet 1986;23: 589-95.
7. [7] 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.
8. [8] Rees M, Diebold U, Parker K, Doose H, Gardiner RM, Whitehouse WP. Benign childhood epilepsy with centrotemporal spikes and the focal wave trail is not linked to the fragile X region. Neuropediatrics 1993;24:211-3.
9. [9] Pergolizzi RG, Erster SH, Goonewardena P, Brown WT. Detection of full fragile X mutation. The Lancet 1992;339:271-2.
10. [10] Doose H, Baier WK. Benign partial epilepsy and related conditions: Multifactorial pathogenesis with hereditary impairment of brain maturation. Eur J Pediatr 1989;149:152-8.
11. [11] Reiss AL, Kazazian HH, Krebs CM, McAughan A, Boehm CD, Abrams MT, Nelson DL. Frequency and stability of the fragile X premutation. Hum Mol Genet 1994;3:393-8.
12. [12] Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993;4:335-40.
13. [13] Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G. Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR-1 that causes fragile X syndrome. Cell 1994;77:33-9.
14. [14] Reiss AL, Lee J, Freund L. Neuroanatomy of fragile X syndrome: The temporal lobe. Neurology 1994;44:1317-24.