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Volumn 42, Issue 1, 2010, Pages 65-68

Gaucher Disease Patient With Myoclonus Epilepsy and a Novel Mutation

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; ETHOSUXIMIDE; GLUCOSYLCERAMIDASE; PHENOBARBITAL; PIRACETAM; VALPROIC ACID;

EID: 71149083126     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.08.007     Document Type: Article
Times cited : (7)

References (11)
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    • (1996) Hum Mutat , vol.7 , pp. 214-218
    • Kim, J.W.1    Liou, B.B.2    Lai, M.Y.3    Ponce, E.4    Grabowski, G.A.5
  • 2
    • 24344442689 scopus 로고    scopus 로고
    • Gaucher mutation N188S is associated with myoclonic epilepsy
    • Kowarz L., Goker-Alpan O., Banerjee-Basu S., et al. Gaucher mutation N188S is associated with myoclonic epilepsy. Hum Mutat 26 (2005) 271-273
    • (2005) Hum Mutat , vol.26 , pp. 271-273
    • Kowarz, L.1    Goker-Alpan, O.2    Banerjee-Basu, S.3
  • 3
    • 0037369244 scopus 로고    scopus 로고
    • Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup
    • Park J.K., Orvisky E., Tayebi N., et al. Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup. Pediatr Res 53 (2003) 387-395
    • (2003) Pediatr Res , vol.53 , pp. 387-395
    • Park, J.K.1    Orvisky, E.2    Tayebi, N.3
  • 4
    • 4544355311 scopus 로고    scopus 로고
    • Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/ S107L)
    • Filocamo M., Mazzotti R., Stroppiano M., Grossi S., Dravet C., and Guerrini R. Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/ S107L). Epilepsia 45 (2004) 1154-1157
    • (2004) Epilepsia , vol.45 , pp. 1154-1157
    • Filocamo, M.1    Mazzotti, R.2    Stroppiano, M.3    Grossi, S.4    Dravet, C.5    Guerrini, R.6
  • 5
    • 0029054529 scopus 로고
    • Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: Absence of the common Jewish 84GG and 1226G mutations
    • Ida H., Iwasawa K., Kawame H., Rennert O.M., Maekawa K., and Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: Absence of the common Jewish 84GG and 1226G mutations. Hum Genet 95 (1995) 717-720
    • (1995) Hum Genet , vol.95 , pp. 717-720
    • Ida, H.1    Iwasawa, K.2    Kawame, H.3    Rennert, O.M.4    Maekawa, K.5    Eto, Y.6
  • 6
    • 0031043599 scopus 로고    scopus 로고
    • Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations
    • Ida H., Rennert O.M., Kawame H., Maekawa K., and Eto E. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations. J Inherit Metab Dis 20 (1997) 67-73
    • (1997) J Inherit Metab Dis , vol.20 , pp. 67-73
    • Ida, H.1    Rennert, O.M.2    Kawame, H.3    Maekawa, K.4    Eto, E.5
  • 7
    • 0032806113 scopus 로고    scopus 로고
    • Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation
    • Ida H., Rennert O.M., Iwasawa K., Kobayashi M., and Eto Y. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet 105 (1999) 120-126
    • (1999) Hum Genet , vol.105 , pp. 120-126
    • Ida, H.1    Rennert, O.M.2    Iwasawa, K.3    Kobayashi, M.4    Eto, Y.5
  • 8
    • 2642562168 scopus 로고    scopus 로고
    • Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms
    • Montfort M., Chabas A., Vilageliu L., and Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. Hum Mutat 23 (2004) 567-575
    • (2004) Hum Mutat , vol.23 , pp. 567-575
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  • 9
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    • Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles
    • Choy F.Y., Zhang W., Shi H.P., et al. Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Blood Cells Mol Dis 38 (2007) 287-293
    • (2007) Blood Cells Mol Dis , vol.38 , pp. 287-293
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  • 10
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    • Erdos, M.1    Hodanova, K.2    Tasko, S.3
  • 11
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    • Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: Neuropathological and neurochemical findings
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.