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Journal Abstract Search

519 related items for PubMed ID: 7550350

  • 1. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
    Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF.
    Nat Genet; 1995 Oct; 11(2):201-3. PubMed ID: 7550350
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  • 3. A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
    Cho YW, Motamedi GK, Laufenberg I, Sohn SI, Lim JG, Lee H, Yi SD, Lee JH, Kim DK, Reba R, Gaillard WD, Theodore WH, Lesser RP, Steinlein OK.
    Arch Neurol; 2003 Nov; 60(11):1625-32. PubMed ID: 14623738
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  • 4. The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy.
    Liu H, Lu C, Li Z, Zhou S, Li X, Ji L, Lu Q, Lv R, Wu L, Ma X.
    Epilepsy Res; 2011 Jun; 95(1-2):94-9. PubMed ID: 21497487
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  • 8. Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families.
    Bonati MT, Combi R, Asselta R, Duga S, Malcovati M, Oldani A, Zucconi M, Ferini-Strambi L, Dalprà L, Tenchini ML.
    J Neurol; 2002 Aug; 249(8):967-74. PubMed ID: 12195439
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  • 10. [Autosomal dominant nocturnal frontal lobe epilepsy].
    Thomas P, Picard F, Hirsch E, Chatel M, Marescaux C.
    Rev Neurol (Paris); 1998 Apr; 154(3):228-35. PubMed ID: 9773047
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  • 11. Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.
    Hoda JC, Wanischeck M, Bertrand D, Steinlein OK.
    FEBS Lett; 2009 May 19; 583(10):1599-604. PubMed ID: 19383498
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  • 15. A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI).
    Beck C, Moulard B, Steinlein O, Guipponi M, Vallee L, Montpied P, Baldy-Moulnier M, Malafosse A.
    Neurobiol Dis; 1994 Nov 19; 1(1-2):95-9. PubMed ID: 9216991
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  • 16. Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.
    Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalprà L, Malcovati M, Tenchini ML, Smirne S, Ferini-Strambi L.
    Brain; 1998 Feb 19; 121 ( Pt 2)():205-23. PubMed ID: 9549500
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  • 19. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.
    Chen Y, Wu L, Fang Y, He Z, Peng B, Shen Y, Xu Q.
    Epilepsy Res; 2009 Feb 19; 83(2-3):152-6. PubMed ID: 19058950
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  • 20. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
    Hirose S, Iwata H, Akiyoshi H, Kobayashi K, Ito M, Wada K, Kaneko S, Mitsudome A.
    Neurology; 1999 Nov 10; 53(8):1749-53. PubMed ID: 10563623
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