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Journal Abstract Search

206 related items for PubMed ID: 17641268

  • 1. A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.
    Doria Lamba L, Giribaldi G, De Negri E, Follo R, De Grandis E, Pintaudi M, Veneselli E.
    J Child Neurol; 2007 Jun; 22(6):769-72. PubMed ID: 17641268
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  • 4. Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.
    Bakker MJ, Peeters EA, Tijssen MA.
    Mov Disord; 2009 Sep 15; 24(12):1852-4. PubMed ID: 19562758
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  • 6. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.
    Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW.
    Ann Neurol; 1992 Jun 15; 31(6):663-8. PubMed ID: 1355335
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  • 9. Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene.
    Kimura M, Taketani T, Horie A, Isumi H, Sejima H, Yamaguchi S.
    Brain Dev; 2006 May 15; 28(4):228-31. PubMed ID: 16478653
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  • 13. Hyperekplexia (startle disease) mimicking neonatal seizures: report of one case.
    Chen CH, Lee HF, Chi CS.
    Acta Paediatr Taiwan; 2007 May 15; 48(1):20-2. PubMed ID: 19653412
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  • 14. Hyperekplexia: a treatable neurogenetic disease.
    Zhou L, Chillag KL, Nigro MA.
    Brain Dev; 2002 Oct 15; 24(7):669-74. PubMed ID: 12427512
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  • 15. Major and minor form of hereditary hyperekplexia.
    Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P.
    Mov Disord; 2002 Jul 15; 17(4):826-30. PubMed ID: 12210885
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  • 17. GLRB is the third major gene of effect in hyperekplexia.
    Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.
    Hum Mol Genet; 2013 Mar 01; 22(5):927-40. PubMed ID: 23184146
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  • 18. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
    Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M.
    J Med Genet; 1996 May 01; 33(5):435-6. PubMed ID: 8733061
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  • 19. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
    Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ.
    Nat Genet; 1993 Dec 01; 5(4):351-8. PubMed ID: 8298642
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  • 20. Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
    Coto E, Armenta D, Espinosa R, Argente J, Castro MG, Alvarez V.
    Mov Disord; 2005 Dec 01; 20(12):1626-9. PubMed ID: 16078201
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