메뉴 건너뛰기




Volumn 19, Issue 7, 2004, Pages 522-525

Familial hyperekplexia and refractory status epilepticus: A new autosomal recessive syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; CORTICOSTEROID; DEXTROMETHORPHAN; ETIRACETAM; IMMUNOGLOBULIN; KETAMINE; METHYLPREDNISOLONE; MIDAZOLAM; N METHYL DEXTRO ASPARTIC ACID; OXCARBAZEPINE; PENTOBARBITAL; PHENOBARBITAL; PHENYTOIN; PROPOFOL; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

EID: 8344276649     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738040190070801     Document Type: Article
Times cited : (8)

References (18)
  • 1
    • 0036806404 scopus 로고    scopus 로고
    • Hyperekplexia: A treatable neurogenetic disease
    • Zhou L, Chillag KL, Nigro MA: Hyperekplexia: a treatable neurogenetic disease. Brain Dev 2002;24:669-674.
    • (2002) Brain Dev. , vol.24 , pp. 669-674
    • Zhou, L.1    Chillag, K.L.2    Nigro, M.A.3
  • 2
    • 0037021325 scopus 로고    scopus 로고
    • The inhibitory glycine receptor - Simple views of a complicated channel
    • Breitinger HG, Becker CM: The inhibitory glycine receptor - Simple views of a complicated channel. Chembiochemistry 2002;3: 1042-1052.
    • (2002) Chembiochemistry , vol.3 , pp. 1042-1052
    • Breitinger, H.G.1    Becker, C.M.2
  • 3
    • 0041589459 scopus 로고    scopus 로고
    • Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia
    • Rees MI, Harvey K, Ward H, et al: Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. J Biol Chem 2003;278:24688-24696.
    • (2003) J. Biol. Chem. , vol.278 , pp. 24688-24696
    • Rees, M.I.1    Harvey, K.2    Ward, H.3
  • 4
    • 0030864920 scopus 로고    scopus 로고
    • Hyperekplexia-like syndromes without mutations in the GLRA1 gene
    • Vergouwe MN, Tijssen MA, Shiang R, et al: Hyperekplexia-like syndromes without mutations in the GLRA1 gene. Clin Neurol Neurosurg 1997;99:172-178.
    • (1997) Clin. Neurol. Neurosurg. , vol.99 , pp. 172-178
    • Vergouwe, M.N.1    Tijssen, M.A.2    Shiang, R.3
  • 5
    • 0029898185 scopus 로고    scopus 로고
    • Co-dominant inheritance of hyperekplexia and spastic paraparesis
    • Baxter P, Connolly S, Curtis A, et al: Co-dominant inheritance of hyperekplexia and spastic paraparesis. Dev Med Child Neurol 1996;38:739-743.
    • (1996) Dev. Med. Child Neurol. , vol.38 , pp. 739-743
    • Baxter, P.1    Connolly, S.2    Curtis, A.3
  • 6
    • 0037065768 scopus 로고    scopus 로고
    • Symptomatic hyperekplexia in a patient with multiple sclerosis
    • Ruprecht K, Warmuth-Metz M, Waespe W, Gold R: Symptomatic hyperekplexia in a patient with multiple sclerosis. Neurology 2002;58:503-504.
    • (2002) Neurology , vol.58 , pp. 503-504
    • Ruprecht, K.1    Warmuth-Metz, M.2    Waespe, W.3    Gold, R.4
  • 7
    • 0036257442 scopus 로고    scopus 로고
    • Hyperekplexia in a girl with posterior fossa malformations
    • Goraya JS, Shah D, Poddar B: Hyperekplexia in a girl with posterior fossa malformations. Child Neurol 2002;17:147-149.
    • (2002) Child Neurol. , vol.17 , pp. 147-149
    • Goraya, J.S.1    Shah, D.2    Poddar, B.3
  • 9
    • 0036538280 scopus 로고    scopus 로고
    • Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)
    • Rees MI, Lewis TM, Kwok JB, et al: Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). Hum Mol Genet 2002;11:853-860.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 853-860
    • Rees, M.I.1    Lewis, T.M.2    Kwok, J.B.3
  • 10
    • 0347296193 scopus 로고    scopus 로고
    • Distribution of gephyrin in the human brain: An immunohistochemical analysis
    • Waldvogel HJ, Baer K, Snell RG, et al: Distribution of gephyrin in the human brain: An immunohistochemical analysis. Neuroscience 2003;116:145-156.
    • (2003) Neuroscience , vol.116 , pp. 145-156
    • Waldvogel, H.J.1    Baer, K.2    Snell, R.G.3
  • 11
    • 0032514872 scopus 로고    scopus 로고
    • Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity
    • Feng G, Tintrup H, Kirsch J, et al: Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity. Science 1998;282:1321-1324.
    • (1998) Science , vol.282 , pp. 1321-1324
    • Feng, G.1    Tintrup, H.2    Kirsch, J.3
  • 12
    • 0035166780 scopus 로고    scopus 로고
    • A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency
    • Reiss J, Gross-Hardt S, Christensen E, et al: A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am J Hum Genet 2001;68:208-213.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 208-213
    • Reiss, J.1    Gross-Hardt, S.2    Christensen, E.3
  • 13
    • 0034804087 scopus 로고    scopus 로고
    • Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
    • Rees MI, Lewis TM, Vafa B, et al: Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia. Hum Genet 2001;109:267-270.
    • (2001) Hum. Genet. , vol.109 , pp. 267-270
    • Rees, M.I.1    Lewis, T.M.2    Vafa, B.3
  • 15
    • 0036807537 scopus 로고    scopus 로고
    • Glutamic acid decarboxylase autoantibodies and neurological disorders
    • Vianello M, Tavolato B, Giometto B: Glutamic acid decarboxylase autoantibodies and neurological disorders. Neurol Sci 2002; 23:145-151.
    • (2002) Neurol. Sci. , vol.23 , pp. 145-151
    • Vianello, M.1    Tavolato, B.2    Giometto, B.3
  • 17
    • 18344410439 scopus 로고    scopus 로고
    • Autoantibodies to glutamic acid decarboxylase in patients with therapy-resistant epilepsy
    • Peltola J, Kulmala P, Isojarvi J, et al: Autoantibodies to glutamic acid decarboxylase in patients with therapy-resistant epilepsy. Neurology 2000;55:46-50.
    • (2000) Neurology , vol.55 , pp. 46-50
    • Peltola, J.1    Kulmala, P.2    Isojarvi, J.3
  • 18
    • 0033681271 scopus 로고    scopus 로고
    • Autoimmunity to gephyrin in stiff-man syndrome
    • Butler MH, Hayashi A, Ohkoshi N, et al: Autoimmunity to gephyrin in stiff-man syndrome. Neuron 2000;26:307-312.
    • (2000) Neuron , vol.26 , pp. 307-312
    • Butler, M.H.1    Hayashi, A.2    Ohkoshi, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.