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Volumn 15, Issue 6, 2006, Pages 449-453

Electroclinical evolution in ring chromosome 20 epilepsy syndrome: A case with severe phenotypic features followed for 25 years

Author keywords

Chromosomal anomaly; Dysmorphism; Epilepsy; Mental retardation; Ring chromosome 20

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; GABAPENTIN; PHENOBARBITAL; VALPROIC ACID;

EID: 33746877125     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2006.03.004     Document Type: Article
Times cited : (19)

References (13)
  • 1
    • 0030911459 scopus 로고    scopus 로고
    • Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome
    • Inoue Y., Fujiwara T., Matsuda K., Kubota H., Tanaka M., Yagi K., et al. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. Brain 120 (1997) 939-953
    • (1997) Brain , vol.120 , pp. 939-953
    • Inoue, Y.1    Fujiwara, T.2    Matsuda, K.3    Kubota, H.4    Tanaka, M.5    Yagi, K.6
  • 3
    • 0034011786 scopus 로고    scopus 로고
    • Chromosome 20 en anneau: un syndrome épileptique identifiable
    • Roubertie A., Petit J., and Genton P. Chromosome 20 en anneau: un syndrome épileptique identifiable. Rev Neurol (Paris) 156 (2000) 149-153
    • (2000) Rev Neurol (Paris) , vol.156 , pp. 149-153
    • Roubertie, A.1    Petit, J.2    Genton, P.3
  • 4
    • 14044279830 scopus 로고    scopus 로고
    • Mosaicism and phenotype in ring chromosome 20 syndrome
    • Nishiwaki T., Hirano M., Kumazawa M., and Ueno S. Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurol Scand 111 (2005) 205-208
    • (2005) Acta Neurol Scand , vol.111 , pp. 205-208
    • Nishiwaki, T.1    Hirano, M.2    Kumazawa, M.3    Ueno, S.4
  • 5
    • 0017069299 scopus 로고
    • Usefulness of chromosome catalog in delineating new syndromes
    • Borgaonkar D.S., Lacassie Y.E., and Stoll C. Usefulness of chromosome catalog in delineating new syndromes. Birth Defects 12 (1976) 87-95
    • (1976) Birth Defects , vol.12 , pp. 87-95
    • Borgaonkar, D.S.1    Lacassie, Y.E.2    Stoll, C.3
  • 6
    • 0031684193 scopus 로고    scopus 로고
    • Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
    • Canevini M.P., Sgro V., Zuffardi O., et al. Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. Epilepsia 39 (1998) 942-951
    • (1998) Epilepsia , vol.39 , pp. 942-951
    • Canevini, M.P.1    Sgro, V.2    Zuffardi, O.3
  • 8
    • 0033287565 scopus 로고    scopus 로고
    • Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases
    • Petit J., Roubertie A., Inoue Y., and Genton P. Non-convulsive status in the ring chromosome 20 syndrome: a video illustration of 3 cases. Epilept Disord 1 (1999) 237-241
    • (1999) Epilept Disord , vol.1 , pp. 237-241
    • Petit, J.1    Roubertie, A.2    Inoue, Y.3    Genton, P.4
  • 11
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11 (1995) 201-203
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6
  • 13
    • 0027303944 scopus 로고
    • Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability
    • Pezzolo A., Gimelli G., Cohen A., Lavaggetto A., Romano C., Fogu G., et al. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet 92 (1993) 23-27
    • (1993) Hum Genet , vol.92 , pp. 23-27
    • Pezzolo, A.1    Gimelli, G.2    Cohen, A.3    Lavaggetto, A.4    Romano, C.5    Fogu, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.