메뉴 건너뛰기




Volumn 38, Issue 4, 2008, Pages 252-255

Unverricht-Lundborg Progressive Myoclonus Epilepsy in Oman

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN DYSFUNCTION; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FEMALE; GENE MUTATION; HUMAN; MALE; MYOCLONUS EPILEPSY; OMAN; ONSET AGE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 40749111466     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.11.006     Document Type: Article
Times cited : (13)

References (19)
  • 1
    • 0025371052 scopus 로고
    • Classification of progressive myoclonus epilepsies and related disorders
    • Marseille Consensus Group
    • Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 28 (1990) 113-116
    • (1990) Ann Neurol , vol.28 , pp. 113-116
  • 2
    • 0018428007 scopus 로고
    • Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
    • Norio R., and Koskiniemi M. Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet 15 (1979) 382-398
    • (1979) Clin Genet , vol.15 , pp. 382-398
    • Norio, R.1    Koskiniemi, M.2
  • 3
    • 0032792737 scopus 로고    scopus 로고
    • Progressive myoclonus epilepsy of Unverricht-Lundborg type
    • Lehesjoki A.E., and Koskiniemi M. Progressive myoclonus epilepsy of Unverricht-Lundborg type. Epilepsia 40 Suppl. 3 (1999) 23-28
    • (1999) Epilepsia , vol.40 , Issue.SUPPL. 3 , pp. 23-28
    • Lehesjoki, A.E.1    Koskiniemi, M.2
  • 4
    • 0023005321 scopus 로고
    • Progressive myoclonus epilepsies: Specific causes and diagnosis
    • Berkovic S.F., Andermann F., Carpenter S., and Wolfe L.S. Progressive myoclonus epilepsies: Specific causes and diagnosis. N Engl J Med 315 (1986) 296-305
    • (1986) N Engl J Med , vol.315 , pp. 296-305
    • Berkovic, S.F.1    Andermann, F.2    Carpenter, S.3    Wolfe, L.S.4
  • 5
    • 13344269666 scopus 로고    scopus 로고
    • Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
    • Pennacchio L.A., Lehesjoki A.E., Stone N.E., et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271 (1996) 1731-1734
    • (1996) Science , vol.271 , pp. 1731-1734
    • Pennacchio, L.A.1    Lehesjoki, A.E.2    Stone, N.E.3
  • 6
    • 0031034894 scopus 로고    scopus 로고
    • Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
    • Lafreniere R.G., Rochefort D.L., Chretien N., et al. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet 15 (1997) 298-302
    • (1997) Nat Genet , vol.15 , pp. 298-302
    • Lafreniere, R.G.1    Rochefort, D.L.2    Chretien, N.3
  • 7
    • 33644834359 scopus 로고    scopus 로고
    • On the road to tractability: The current biochemical understanding of progressive myoclonus epilepsies
    • Lohi H., Chan E.M., Scherer S.W., and Minassian B.A. On the road to tractability: The current biochemical understanding of progressive myoclonus epilepsies. Adv Neurol 97 (2006) 399-415
    • (2006) Adv Neurol , vol.97 , pp. 399-415
    • Lohi, H.1    Chan, E.M.2    Scherer, S.W.3    Minassian, B.A.4
  • 8
    • 20144376593 scopus 로고    scopus 로고
    • A new clinical and molecular form of Unverricht-Lundborg disease localised by homozygosity mapping
    • Berkovic S.F., Mazarib A., Walid S., et al. A new clinical and molecular form of Unverricht-Lundborg disease localised by homozygosity mapping. Brain 128 (2005) 652-658
    • (2005) Brain , vol.128 , pp. 652-658
    • Berkovic, S.F.1    Mazarib, A.2    Walid, S.3
  • 9
    • 0021928687 scopus 로고
    • The spectrum of cortical myoclonus
    • Obeso J.A., Rothwell J.C., and Marsden C.D. The spectrum of cortical myoclonus. Brain 108 (1985) 193-224
    • (1985) Brain , vol.108 , pp. 193-224
    • Obeso, J.A.1    Rothwell, J.C.2    Marsden, C.D.3
  • 10
    • 17344372332 scopus 로고    scopus 로고
    • A PCR amplification method reveals instability the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset
    • Lalioti M.D., Scott H.S., Genton P., et al. A PCR amplification method reveals instability the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Am J Hum Genet 62 (1998) 842-847
    • (1998) Am J Hum Genet , vol.62 , pp. 842-847
    • Lalioti, M.D.1    Scott, H.S.2    Genton, P.3
  • 11
    • 40749155471 scopus 로고    scopus 로고
    • Psychological findings in progressive myoclonus epilepsy without Lafora bodies
    • Koskiniemi M. Psychological findings in progressive myoclonus epilepsy without Lafora bodies. Epilepsia 40 Suppl. 3 (1999) 23-28
    • (1999) Epilepsia , vol.40 , Issue.SUPPL. 3 , pp. 23-28
    • Koskiniemi, M.1
  • 12
    • 0036372801 scopus 로고    scopus 로고
    • Clinical features and genetic study of Unverricht-Lundborg disease
    • Lehesjoki A.E. Clinical features and genetic study of Unverricht-Lundborg disease. Adv Neurol 89 (2002) 193-197
    • (2002) Adv Neurol , vol.89 , pp. 193-197
    • Lehesjoki, A.E.1
  • 14
    • 0035949740 scopus 로고    scopus 로고
    • Unverricht-Lundborg disease in a five-generation Arab family
    • Mazarib A., Xiong L., Neufeld M.Y., et al. Unverricht-Lundborg disease in a five-generation Arab family. Neurology 57 (2001) 1050-1054
    • (2001) Neurology , vol.57 , pp. 1050-1054
    • Mazarib, A.1    Xiong, L.2    Neufeld, M.Y.3
  • 15
    • 0028944639 scopus 로고
    • Familial progressive myoclonus epilepsy: Clinical and electrophysiologic observations
    • Acharya J.N., Satishchandra P., and Shankar S.K. Familial progressive myoclonus epilepsy: Clinical and electrophysiologic observations. Epilepsia 36 (1995) 429-434
    • (1995) Epilepsia , vol.36 , pp. 429-434
    • Acharya, J.N.1    Satishchandra, P.2    Shankar, S.K.3
  • 16
    • 33845392800 scopus 로고    scopus 로고
    • Progressive myolonic epilepsy: A clinical, electrophysiological and pathological study from South India
    • Sinha S., Satishchandra P., Gayathri N., Yasha T.C., and Sankar S.K. Progressive myolonic epilepsy: A clinical, electrophysiological and pathological study from South India. J Neurol Sci 252 (2007) 16-23
    • (2007) J Neurol Sci , vol.252 , pp. 16-23
    • Sinha, S.1    Satishchandra, P.2    Gayathri, N.3    Yasha, T.C.4    Sankar, S.K.5
  • 17
    • 11144303456 scopus 로고    scopus 로고
    • Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease
    • Canafoglia L., Ciano C., Panzica F., et al. Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. Neurology 63 (2004) 2309-2315
    • (2004) Neurology , vol.63 , pp. 2309-2315
    • Canafoglia, L.1    Ciano, C.2    Panzica, F.3
  • 18
    • 0034106974 scopus 로고    scopus 로고
    • A study of consanguinity in the Sultanate of Oman
    • Rajab A., and Patton M.A. A study of consanguinity in the Sultanate of Oman. Ann Hum Biol 27 (2000) 321-326
    • (2000) Ann Hum Biol , vol.27 , pp. 321-326
    • Rajab, A.1    Patton, M.A.2
  • 19
    • 33745251006 scopus 로고    scopus 로고
    • Unverricht-Lundborg disease, a condition with self-limited progression: Long-term follow up of 20 patients
    • Magaudda A., Ferlazzo E., Nguyen V.H., and Genton P. Unverricht-Lundborg disease, a condition with self-limited progression: Long-term follow up of 20 patients. Epilepsia 47 (2006) 860-866
    • (2006) Epilepsia , vol.47 , pp. 860-866
    • Magaudda, A.1    Ferlazzo, E.2    Nguyen, V.H.3    Genton, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.