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Volumn 25, Issue 13, 2010, Pages 2265-2267

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL; TECHNETIUM 99M;

EID: 78649342647     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23164     Document Type: Letter
Times cited : (9)

References (7)
  • 1
    • 41749087762 scopus 로고    scopus 로고
    • Severe neonatal epilepsies with suppression-burst pattern
    • Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, editors. Montrouge: John Libbey Eurotext
    • Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence. Montrouge: John Libbey Eurotext; 2005. p 39-50.
    • (2005) Epileptic syndromes in infancy, childhood and adolescence , pp. 39-50
    • Aicardi, J.1    Ohtahara, S.2
  • 2
    • 34547812084 scopus 로고    scopus 로고
    • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
    • Kato M, Saitoh S, Kamei A, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007;81:361-366.
    • (2007) Am J Hum Genet , vol.81 , pp. 361-366
    • Kato, M.1    Saitoh, S.2    Kamei, A.3
  • 3
    • 44349096827 scopus 로고    scopus 로고
    • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
    • Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008;40:782-788.
    • (2008) Nat Genet , vol.40 , pp. 782-788
    • Saitsu, H.1    Kato, M.2    Mizuguchi, T.3
  • 4
    • 0033065245 scopus 로고    scopus 로고
    • SNAREs and SNARE regulators in membrane fusion and exocytosis
    • Gerst JE. SNAREs and SNARE regulators in membrane fusion and exocytosis. Cell Mol Life Sci 1999;55:707-734.
    • (1999) Cell Mol Life Sci , vol.55 , pp. 707-734
    • Gerst, J.E.1
  • 5
    • 67650090920 scopus 로고    scopus 로고
    • De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
    • Hamdan FF, Piton A, Gauthier J, et al. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol 2009;65:748-753.
    • (2009) Ann Neurol , vol.65 , pp. 748-753
    • Hamdan, F.F.1    Piton, A.2    Gauthier, J.3
  • 6
    • 41749084669 scopus 로고    scopus 로고
    • Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
    • Tohyama J, Akasaka N, Osaka H, et al. Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. Brain Dev 2008;30:349-355.
    • (2008) Brain Dev , vol.30 , pp. 349-355
    • Tohyama, J.1    Akasaka, N.2    Osaka, H.3
  • 7
    • 0025321039 scopus 로고
    • Functional architecture of basal ganglia circuits: neural substrates of parallel processing
    • Alexander GE, Crutcher MD. Functional architecture of basal ganglia circuits: neural substrates of parallel processing. Trends Neurosci 1990;13:266-271.
    • (1990) Trends Neurosci , vol.13 , pp. 266-271
    • Alexander, G.E.1    Crutcher, M.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.