메뉴 건너뛰기




Volumn 152, Issue 6-7, 1996, Pages 447-450

Familial hyperekplexia: A startle disease;HYPEREKPLEXIE FAMILIALE: LA MALADIE DU SURSAUT

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; HUMAN; MOLECULAR GENETICS; STARTLE REFLEX; CHROMOSOME MAP; ELECTROPHYSIOLOGY; GENETICS; MUSCLE HYPERTONIA; MUTATION; PATHOPHYSIOLOGY; REVIEW;

EID: 0030157847     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (20)

References (31)
  • 1
    • 84961002366 scopus 로고
    • La syncinésie-sursaut et l'épilepsie-sursaut à déclenchement sensorial ou sensitif inopiné
    • ALAJOUANINE Th., GASTAUT H. (1955). La syncinésie-sursaut et l'épilepsie-sursaut à déclenchement sensorial ou sensitif inopiné. Rev Neurol, 93: 29-41.
    • (1995) Rev Neurol , vol.93 , pp. 29-41
    • Alajouanine, Th.1    Gastaut, H.2
  • 2
    • 0019225609 scopus 로고
    • Startle disease or hyperekplexia : Further delineation of the syndrome
    • ANDERMANN F., KEENE D.L., ANDERMANN E., QUESNEY L.F. (1980). Startle disease or hyperekplexia : further delineation of the syndrome. Brain. 103 : 985-997
    • (1980) Brain , vol.103 , pp. 985-997
    • Andermann, F.1    Keene, D.L.2    Andermann, E.3    Quesney, L.F.4
  • 3
    • 0022611715 scopus 로고
    • Excessive startle syndromes: Startle disease, Jumping, and startle epilepsy
    • ANDERMANN F., ANDERMANN E. (1986). Excessive startle syndromes: startle disease, Jumping, and startle epilepsy. Adv Neurol, 43 : 321 - 338.
    • (1986) Adv Neurol , vol.43 , pp. 321-338
    • Andermann, F.1    Andermann, E.2
  • 4
    • 0000457084 scopus 로고
    • Remarks on « Jumpers or Jumping frenchmen »
    • BEARD G.M. (1878). Remarks on « Jumpers or Jumping frenchmen ». J New Ment Dis, 5 : 525-526.
    • (1878) J New Ment Dis , vol.5 , pp. 525-526
    • Beard, G.M.1
  • 7
    • 0017325014 scopus 로고
    • Effects of voluntary isometric and isotonic activity on late transcortical reflex components in normal subjects and hemiparetic patients
    • CONRAD B., ASCHOFF J.C. (1977). Effects of voluntary isometric and isotonic activity on late transcortical reflex components in normal subjects and hemiparetic patients. Electroencephalogr Clin Neurophysiol, 42 : 107-116.
    • (1977) Electroencephalogr Clin Neurophysiol , vol.42 , pp. 107-116
    • Conrad, B.1    Aschoff, J.C.2
  • 8
    • 0017842343 scopus 로고
    • Periodic nocturnal myoclonus in a patient with hyperekplexia (startle disease)
    • De GRON J.H.M., KAMPHUISEN H.A.C. (1978). Periodic nocturnal myoclonus in a patient with hyperekplexia (startle disease). J Neurol Sci. 38: 207-213.
    • (1978) J Neurol Sci , vol.38 , pp. 207-213
    • De Gron, J.H.M.1    Kamphuisen, H.A.C.2
  • 9
    • 0019957992 scopus 로고
    • A primary acoustic startle circuit : Lesion and stimulation studies
    • DAVIS M., GENDELMAN D.S., TISCHLER M.D., GENDELMAN P.M. (1982). A primary acoustic startle circuit : lesion and stimulation studies. J Neurosci, 2 : 791-805.
    • (1982) J Neurosci , vol.2 , pp. 791-805
    • Davis, M.1    Gendelman, D.S.2    Tischler, M.D.3    Gendelman, P.M.4
  • 10
    • 0024583109 scopus 로고    scopus 로고
    • Startle disease or hyperekplexia : Adolescent onset and response to valproate
    • DOOLEY J.M., ANDERMANN F. (1998). Startle disease or hyperekplexia : adolescent onset and response to valproate. Pediatr Neurol. 5 : 126-7.
    • (1998) Pediatr Neurol , vol.5 , pp. 126-127
    • Dooley, J.M.1    Andermann, F.2
  • 11
    • 0024100648 scopus 로고
    • Anatomical and clinical study of a case of sub-acute encephalomyelitis with hyperekplexia syndrome
    • FENZI F., BONGIOVANNI G., FINCATI E., PAMPANIN M., TOMELLERI G., RIZZUTO N. (1988). Anatomical and clinical study of a case of sub-acute encephalomyelitis with hyperekplexia syndrome, Ital J Neurol Sci, 9 : 505-508.
    • (1988) Ital J Neurol Sci , vol.9 , pp. 505-508
    • Fenzi, F.1    Bongiovanni, G.2    Fincati, E.3    Pampanin, M.4    Tomelleri, G.5    Rizzuto, N.6
  • 13
    • 0014151623 scopus 로고
    • The startle disease or hyperekplexia : Pathological surprise reaction
    • GASTAUT H, VILLENEUVE A. (1967). The startle disease or hyperekplexia : pathological surprise reaction. J Neurol Sci, 5 : 523-542.
    • (1967) J Neurol Sci , vol.5 , pp. 523-542
    • Gastaut, H.1    Villeneuve, A.2
  • 14
    • 0003812479 scopus 로고
    • Hyperekplexia : Effective treatment with clonazepam
    • KELTS K.A., HARRISON J. (1988). Hyperekplexia : effective treatment with clonazepam. Ann Neurol, 24 : 309.
    • (1988) Ann Neurol , vol.24 , pp. 309
    • Kelts, K.A.1    Harrison, J.2
  • 15
    • 84989999646 scopus 로고
    • A family with emotionally precipitated drop seizures
    • KIRSTEIN L., SILFVERSKIÖLD B. (1958). A family with emotionally precipitated drop seizures. Acta Psychiatr Scand, 33 : 471-6.
    • (1958) Acta Psychiatr Scand , vol.33 , pp. 471-476
    • Kirstein, L.1    Silfverskiöld, B.2
  • 16
    • 0000266703 scopus 로고
    • An unidentified hereditary disease
    • KOK O., BRUYN G.W. (1962). An unidentified hereditary disease. Lancet : 1359.
    • (1962) Lancet , vol.1359
    • Kok, O.1    Bruyn, G.W.2
  • 17
    • 0020693750 scopus 로고
    • Hyperexplexia
    • KURCZYNSKI T.W. (1983). Hyperexplexia. Arch Neurol, 40 : 246-248.
    • (1983) Arch Neurol , vol.40 , pp. 246-248
    • Kurczynski, T.W.1
  • 19
    • 0021357407 scopus 로고
    • Familiar startle disease (hyperekplexia) : Electrophysiologic studies
    • MARKAND O.N., GARG B.P., WEAVER D.D. (1984). Familiar startle disease (hyperekplexia) : electrophysiologic studies. Arch Neurol, 41 : 71-74.
    • (1984) Arch Neurol , vol.41 , pp. 71-74
    • Markand, O.N.1    Garg, B.P.2    Weaver, D.D.3
  • 20
    • 0026758875 scopus 로고
    • Physiological abnormalities in hereditary hyperekplexia
    • MATSUMOTO J., FUHR P., NIGRO M., HALLET M. (1992). Physiological abnormalities in hereditary hyperekplexia. Ann Neurol, 32 : 41-50.
    • (1992) Ann Neurol , vol.32 , pp. 41-50
    • Matsumoto, J.1    Fuhr, P.2    Nigro, M.3    Hallet, M.4
  • 21
    • 0019980517 scopus 로고
    • Hyperekplexia : An inherited disorder of startle response
    • MORLEY J.D., WEAVER D.D., GARG B.P., MARLAND O. (1982). Hyperekplexia : an inherited disorder of startle response. Clin Genet, 21 : 388-396.
    • (1982) Clin Genet , vol.21 , pp. 388-396
    • Morley, J.D.1    Weaver, D.D.2    Garg, B.P.3    Marland, O.4
  • 22
    • 0026651547 scopus 로고
    • Startle disease, or hyperekplexia : Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
    • RYAN S.G., SHERMAN S.L., TERRY J.C., SPARKES R.S., TORRES MC., MACKEY R.W. (1992). Startle disease, or hyperekplexia : response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol, 31 : 663-8.
    • (1992) Ann Neurol , vol.31 , pp. 663-668
    • Ryan, S.G.1    Sherman, S.L.2    Terry, J.C.3    Sparkes, R.S.4    Torres, M.C.5    Mackey, R.W.6
  • 24
    • 0026006850 scopus 로고
    • Nose tapping test inducing a generalized flexor spasm : A hallmark of hyperekplexia
    • SHAHAR E., BRAND N., UZIEL Y., BARAK Y. (1991). Nose tapping test inducing a generalized flexor spasm : a hallmark of hyperekplexia. Acta Paediatr Scand, 80 : 1073-1077.
    • (1991) Acta Paediatr Scand , vol.80 , pp. 1073-1077
    • Shahar, E.1    Brand, N.2    Uziel, Y.3    Barak, Y.4
  • 25
    • 0027330927 scopus 로고
    • Mutations in the alpha I subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
    • SHIANG R., RYAN S.G., ZHU Y., HAHN A.F., O'CONNELL P., WASMUTH J.J. (1993). Mutations in the alpha I subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet, 5 : 351-357.
    • (1993) Nat Genet , vol.5 , pp. 351-357
    • Shiang, R.1    Ryan, S.G.2    Zhu, Y.3    Hahn, A.F.4    O'Connell, P.5    Wasmuth, J.J.6
  • 26
    • 0028216766 scopus 로고
    • An additional family with startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene
    • SCHORDERET D.F., PESCIA G., BERNASCONI A., REGLI F. (1994). An additional family with startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene. Hum Molec Genet. 7 : 1201.
    • (1994) Hum Molec Genet , vol.7 , pp. 1201
    • Schorderet, D.F.1    Pescia, G.2    Bernasconi, A.3    Regli, F.4
  • 27
    • 0000069083 scopus 로고
    • Hyperekplexia : A hereditary startle syndrome
    • SUHREN A.L., BRUYN G.W., TUYNMAN J.A. (1966). Hyperekplexia : a hereditary startle syndrome. J Neurol Sci, 3 : 577-586;
    • (1966) J Neurol Sci , vol.3 , pp. 577-586
    • Suhren, A.L.1    Bruyn, G.W.2    Tuynman, J.A.3
  • 30
    • 0024492904 scopus 로고
    • Startle disease : An avoidable cause of sudden infant death
    • VIGEVANO F., DI CAPUA M., DALLA BERNARDINA B. (1989). Startle disease : an avoidable cause of sudden infant death. Lancet, 1 : 216.
    • (1989) Lancet , vol.1 , pp. 216
    • Vigevano, F.1    Di Capua, M.2    Dalla Bernardina, B.3
  • 31
    • 0022587642 scopus 로고
    • Audiogenic startle reflex of man and its relationship to startle syndromes
    • WILKINS D.E., HALLET M., WESS M.M. (1986). Audiogenic startle reflex of man and its relationship to startle syndromes. Brain, 109 : 561-573.
    • (1986) Brain , vol.109 , pp. 561-573
    • Wilkins, D.E.1    Hallet, M.2    Wess, M.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.