Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)

Epilepsia

Volumn 45, Issue 9, 2004, Pages 1154-1157

  Filocamo, Mirella ^a   Mazzotti, Raffaella ^a   Stroppiano, Marina ^a   Grossi, Serena ^a   Dravet, Charlotte ^b   Guerrini, Renzo ^b  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Gaucher disease type 3; Glucocerebrosidase gene mutation; Occipital seizures; Progressive myoclonic epilepsy

Indexed keywords

ANAMNESIS; ARTICLE; AUTOPSY; BONE MARROW BIOPSY; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DISEASE COURSE; GAUCHER DISEASE; GENETIC ANALYSIS; GRAND MAL SEIZURE; HEPATOMEGALY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; MALE; MYOCLONUS; MYOCLONUS EPILEPSY; NEUROPATHOLOGY; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; VISION;

CHILD; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EPILEPSY, REFLEX; EVOKED POTENTIALS, SOMATOSENSORY; EVOKED POTENTIALS, VISUAL; EXONS; GAUCHER DISEASE; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; PHENOTYPE; SEIZURES;

EID: 4544355311     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0013-9580.2004.15904.x     Document Type: Article

References (15)

1. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS et al., eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001:3635.
2. Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat 1994;3:1-11.
3. Grabowski GA, Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. In: Zimran A, ed. Baillière's clinical haematology: Gaucher's disease. London: Baillère-Tindall, 1997:635.
4. Beutler E, Gelbart T. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 1998;24:2-8.
5. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000;66:1777-86.
6. Stone DL, Tayebi N, Orvisky E, et al. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 2000;15:181-8.
7. Filocamo M, Mazzotti R, Stroppiano M, et al. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients. Hum Mutat 2002;20:234-5.
8. Schwartz EI, Shevtsov SP, Kuchinski AP, et al. Approach to identification of a point mutation in apo B 100 gene by means of a PCR-mediated site-directed mutagenesis. Nucleic Acids Res 1991;19:37-52.
9. Demina A, Beutler E. Six new Gaucher disease mutations. Acta Haematol 1998;99:80-2.
10. Kim JW, Lion BB, Lai MY, et al. Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. Hum Mutat 1996;7:214-8.
11. Choy FY, Humphries ML, Shi H. Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients. Am J Med Genet 1997;71:172-8.
12. Choy FY, Wong K, Shi HP. Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. Am J Med Genet 1999;84:484-6.
13. Alfonso P, Cenarro A, Pérez-Calvo J, et al. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations. Blood Cells Mol Dis 2001;27:882-91.
14. Park JK, Orvisky E, Tayebi N, et al. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Pediatr Res 2003;53:387-95.
15. Guerrini R, Parmeggiani L, Berta E. et al. Occipital lobe seizures. In: Oxbury JM, Polkey CE, Duchowny MS, eds. Intractablefocal epilepsy: medical and surgical treatment. London: WB Saunders, 2000:77.