메뉴 건너뛰기




Volumn 44, Issue 11, 2003, Pages 1459-1462

Infantile Spasms in a Patient with Williams Syndrome and Craniosynostosis

Author keywords

Adrenocorticotropic hormone (ACTH); Hypsarrhythmia; Thyrotropin releasing hormone (TRH); Ventricular hypertrophy

Indexed keywords

ANTICONVULSIVE AGENT; CORTICOTROPIN; NITRAZEPAM; PROTIRELIN; ZONISAMIDE;

EID: 10744229708     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1528-1157.2003.34703.x     Document Type: Article
Times cited : (32)

References (15)
  • 2
    • 0016689490 scopus 로고
    • The Williams elfin faces syndrome
    • Jones KL, Smith DW. The Williams elfin faces syndrome. J Pediatr 1975;86:718-23.
    • (1975) J Pediatr , vol.86 , pp. 718-723
    • Jones, K.L.1    Smith, D.W.2
  • 3
    • 0022521057 scopus 로고
    • Williams syndrome
    • Burn J. Williams syndrome. J Med Genet 1986;23:389-95.
    • (1986) J Med Genet , vol.23 , pp. 389-395
    • Burn, J.1
  • 4
    • 0027185655 scopus 로고
    • Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
    • Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11-6.
    • (1993) Nat Genet , vol.5 , pp. 11-16
    • Ewart, A.K.1    Morris, C.A.2    Atkinson, D.3
  • 5
    • 0029015848 scopus 로고
    • Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients
    • Lowery MC, Morris CA, Ewart A, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 1995;57:49-53.
    • (1995) Am J Hum Genet , vol.57 , pp. 49-53
    • Lowery, M.C.1    Morris, C.A.2    Ewart, A.3
  • 6
    • 0030249984 scopus 로고    scopus 로고
    • Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
    • Osborne LR, Martindale D, Scherer SW, et al. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics 1996;36:328-36.
    • (1996) Genomics , vol.36 , pp. 328-336
    • Osborne, L.R.1    Martindale, D.2    Scherer, S.W.3
  • 7
    • 0023688145 scopus 로고
    • Natural history of Williams syndrome: Physical characteristics
    • Morris CA, Demsey SA, Leonard CO, et al. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113:318-26.
    • (1988) J Pediatr , vol.113 , pp. 318-326
    • Morris, C.A.1    Demsey, S.A.2    Leonard, C.O.3
  • 8
    • 0030971122 scopus 로고    scopus 로고
    • Infantile spasms in two children with Williams syndrome
    • Tsao CY, Westman JA. Infantile spasms in two children with Williams syndrome. Am J Med Genet 1997;71:54-6.
    • (1997) Am J Med Genet , vol.71 , pp. 54-56
    • Tsao, C.Y.1    Westman, J.A.2
  • 9
    • 0031608062 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
    • Mizugishi K, Yamanaka K, Kuwajima K, et al. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 1998;43:178-81.
    • (1998) J Hum Genet , vol.43 , pp. 178-181
    • Mizugishi, K.1    Yamanaka, K.2    Kuwajima, K.3
  • 10
    • 0021747101 scopus 로고
    • An unusual case of recovery from infantile spasms
    • Riikonen R. An unusual case of recovery from infantile spasms. Dev Med Child Neurol 1984;26:818-21.
    • (1984) Dev Med Child Neurol , vol.26 , pp. 818-821
    • Riikonen, R.1
  • 11
    • 0024348718 scopus 로고
    • Neurologic features of Williams and Down syndromes
    • Trauner DA, Bellugi U, Chase C. Neurologic features of Williams and Down syndromes. Pediatr Neorol 1989;5:166-8.
    • (1989) Pediatr Neorol , vol.5 , pp. 166-168
    • Trauner, D.A.1    Bellugi, U.2    Chase, C.3
  • 12
    • 0025300328 scopus 로고
    • Proximal interstitial deletion of 7q: A case report and review of the literature
    • Zackowski JL, Raffel LJ, Blank CA, et al. Proximal interstitial deletion of 7q: a case report and review of the literature. Am J Med Genet 1990;36:328-32.
    • (1990) Am J Med Genet , vol.36 , pp. 328-332
    • Zackowski, J.L.1    Raffel, L.J.2    Blank, C.A.3
  • 13
    • 0023078823 scopus 로고
    • Clinical effects of thyrotropin-releasing hormone for severe epilepsy in childhood: A comparative study with ACTH therapy
    • Matsumoto A, Kumagai T, Takeuchi T, et al. Clinical effects of thyrotropin-releasing hormone for severe epilepsy in childhood: a comparative study with ACTH therapy. Epilepsia 1987;28:49-55.
    • (1987) Epilepsia , vol.28 , pp. 49-55
    • Matsumoto, A.1    Kumagai, T.2    Takeuchi, T.3
  • 14
    • 0034778333 scopus 로고    scopus 로고
    • Thyrotropin-releasing hormone: Role in the treatment of West syndrome and related epileptic encephalitis
    • Takeuchi Y, Takano T, Abe J, et al. Thyrotropin-releasing hormone: role in the treatment of West syndrome and related epileptic encephalitis. Brain Dev 2001;;23:662-7.
    • (2001) Brain Dev , vol.23 , pp. 662-667
    • Takeuchi, Y.1    Takano, T.2    Abe, J.3
  • 15
    • 0033609916 scopus 로고    scopus 로고
    • Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome
    • Cammareri V, Vignati G, Nocera G, et al. Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. Am J Med Genet 1999;85:491-4.
    • (1999) Am J Med Genet , vol.85 , pp. 491-494
    • Cammareri, V.1    Vignati, G.2    Nocera, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.