메뉴 건너뛰기




Volumn 35, Issue 6, 2003, Pages 521-526

Intractable Epilepsy (Apneic Seizure) in an Infant with 18q Deletion Syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; DIAZEPAM; FLUORODEOXYGLUCOSE F 18; LIDOCAINE; MIDAZOLAM; MYELIN BASIC PROTEIN; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID; ZONISAMIDE;

EID: 0242642792     PISSN: 00290831     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (15)
  • 1
    • 0242422459 scopus 로고    scopus 로고
    • Japanese source
  • 2
    • 0033609907 scopus 로고    scopus 로고
    • Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q
    • Cody JD, Ghidoni PD, DuPont BR, et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999; 85:455-62.
    • (1999) Am J Med Genet , vol.85 , pp. 455-462
    • Cody, J.D.1    Ghidoni, P.D.2    DuPont, B.R.3
  • 3
    • 0030816598 scopus 로고    scopus 로고
    • Magnetic resonance imaging demonstrates incomplete myelination in 18q-syndrome: Evidence for myelin basic protein haploinsufficiency
    • Gay CT, Hardies LJ, Rauch RA, et al. Magnetic resonance imaging demonstrates incomplete myelination in 18q-syndrome: evidence for myelin basic protein haploinsufficiency. Am J Med Genet 1997;74:422-31.
    • (1997) Am J Med Genet , vol.74 , pp. 422-431
    • Gay, C.T.1    Hardies, L.J.2    Rauch, R.A.3
  • 5
    • 0027422825 scopus 로고
    • Molecular analysis of the 18q-syndrome-and correlation with phenotype
    • Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18q-syndrome-and correlation with phenotype. Am J Hum Genet 1993;52:895-906.
    • (1993) Am J Hum Genet , vol.52 , pp. 895-906
    • Kline, A.D.1    White, M.E.2    Wapner, R.3
  • 6
    • 0034040115 scopus 로고    scopus 로고
    • Concepts of myelin and myelination in neuroradiology
    • Barkovich AJ. Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol 2000;21: 1099-109.
    • (2000) AJNR Am J Neuroradiol , vol.21 , pp. 1099-1109
    • Barkovich, A.J.1
  • 7
    • 0026601113 scopus 로고
    • Morphometric analysis of normal, mutant, and transgenic CNS: Correlation of myelin basic protein expression to myelinogenesis
    • Shine HD, Readhead C, Popko B, Hood L, Sidman RL. Morphometric analysis of normal, mutant, and transgenic CNS: correlation of myelin basic protein expression to myelinogenesis. J Neurochem 1992;58:342-9.
    • (1992) J Neurochem , vol.58 , pp. 342-349
    • Shine, H.D.1    Readhead, C.2    Popko, B.3    Hood, L.4    Sidman, R.L.5
  • 8
    • 0034985911 scopus 로고    scopus 로고
    • Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
    • Baulac S, Picard F, Hemlan A, et al. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 2001;49: 786-92.
    • (2001) Ann Neurol , vol.49 , pp. 786-792
    • Baulac, S.1    Picard, F.2    Hemlan, A.3
  • 10
    • 0033869328 scopus 로고    scopus 로고
    • Autonomic seizures versus syncope in 18q-deletion syndrome: A case report
    • Sturm K, Knakc S, Schomburg U, et al. Autonomic seizures versus syncope in 18q-deletion syndrome: a case report. Epilepsia 2000;41:1039-43.
    • (2000) Epilepsia , vol.41 , pp. 1039-1043
    • Sturm, K.1    Knakc, S.2    Schomburg, U.3
  • 11
    • 0026742086 scopus 로고
    • Monosomy 18q12.1 → 21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature
    • Krasikov N, Thompson K, Sekhon GS. Monosomy 18q12.1 → 21.1: a recognizable aneuploidy syndrome? Report of a patient and review of the literature. Am J Med Genet 1992;43:531-4.
    • (1992) Am J Med Genet , vol.43 , pp. 531-534
    • Krasikov, N.1    Thompson, K.2    Sekhon, G.S.3
  • 12
    • 0026710963 scopus 로고
    • Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases
    • Chudley AE, Kovnats S, Ray M. Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases. Am J Med Genet 1992;43:535-8.
    • (1992) Am J Med Genet , vol.43 , pp. 535-538
    • Chudley, A.E.1    Kovnats, S.2    Ray, M.3
  • 13
    • 0018630218 scopus 로고
    • Syndromes associated with deletion of the long arm of chromosome 18 [del (18q)]
    • Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18 [del (18q)]. Am J Med Genet 1979;3:155-74.
    • (1979) Am J Med Genet , vol.3 , pp. 155-174
    • Wilson, M.G.1    Towner, J.W.2    Forsman, I.3    Siris, E.4
  • 14
    • 0033590673 scopus 로고    scopus 로고
    • Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
    • Gustavsson P, Kimber E, Wahlstrom J, Anneren G. Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). Am J Med Genet 1999;82:348-51.
    • (1999) Am J Med Genet , vol.82 , pp. 348-351
    • Gustavsson, P.1    Kimber, E.2    Wahlstrom, J.3    Anneren, G.4
  • 15
    • 0027414162 scopus 로고
    • 18q-mosaicism niosaicisin associated with Rett syndrome phenotype
    • Gordon K, Siu VM, Sergovich F, Jung J. 18q-mosaicism niosaicisin associated with Rett syndrome phenotype. Am J Med Genet 1993;46:142-4.
    • (1993) Am J Med Genet , vol.46 , pp. 142-144
    • Gordon, K.1    Siu, V.M.2    Sergovich, F.3    Jung, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.