Pediatric Neurology
Volume 30, Issue 3 , Pages 186-189 , March 2004

Association of the nicotinic receptor beta 2 subunit and febrile seizures

  • Ching-Tien Peng, MD

      Affiliations

    • Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan
    • ,
  • I-Ching Chou, MD

      Affiliations

    • Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan
    • ,
  • Chia-Ing Li, MD

      Affiliations

    • Medical Research, China Medical College Hospital, Taichung, Taiwan
    • ,
  • Yu-An Hsu, BS

      Affiliations

    • Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan
    • ,
  • Chang-Hai Tsai, MD

      Affiliations

    • Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan
    • ,
  • Fuu-Jen Tsai, MD, PhD

      Affiliations

    • Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan
    • Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan
    • Corresponding Author InformationCommunications should be addressed to:Dr. Tsai; Departments of Pediatrics and Medical Genetics; China Medical University Hospital; No. 2 Yuh-Der Road; Taichung, Taiwan.

Received 29 April 2003 ,Accepted 6 August 2003.

References 

  1. Baumann RJ, Duffner PK. Treatment of children with simple febrile seizures (The AAP practice parameter). Pediatr Neurol. 2000;23:11–17
  2. Berg AT, Shinnar S. Unprovoked seizures in children with febrile seizures (Short-term outcome). Neurology. 1996;47:562–568
  3. Helminen M, Vesikari T. Increased interleukin-1 (IL-1) production from LPS-stimulated peripheral blood monocytes in children with febrile convulsions. Acta Paediatr Scand. 1990;79:810–816
  4. Bethune P, Gordon K, Dooley J, Camfield C, Camfield P. Which child will have a febrile seizure?. Am J Dis Child. 1993;147:35–39
  5. Tsuboi T. Genetic analysis of febrile convulsions (Twin and family studies). Hum Genet. 1987;75:7–14
  6. Rich SS, Annegers JF, Hauser WA, Anderson VE. Complex segregation analysis of febrile convulsions. Am J Hum Genet. 1987;41:249–257
  7. Steinlein OK, Mulley JC, Propping P, et al.  A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 1995;11:201–203
  8. Steinlein OK, Magnusson A, Stoodt J, et al.  An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet. 1997;6:943–947
  9. Hirose S, Iwata H, Akiyoshi H, et al.  A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology. 1999;53:1749–1753
  10. Ito M, Kobayashi K, Fujii T, et al.  Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. Epilepsia. 2000;41:52–58
  11. De Fusco M, Becchetti A, Patrignani A, et al.  The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000;26:275–276
  12. Chou IC, Tsai FJ, Huang CC, Lin CC, Tsai CH. The voltage gated potassium Channel KCNQ2 in Taiwanese children with febrile convulsions. Neuroreport. 2002;13:1971–1973
  13. Tsai FJ, Chou IC, Hsieh YY, Lee CC, Lin CC, Tsai CH. Interleukin-4 intron 3 polymorphism is not related to susceptibility to febrile seizures. Pediatr Neurol. 2002;27:271–274
  14. Chou IC, Peng CT, Huang CC, Tsai JP, Tsai FJ, Tsai CH. Association analysis of GABRG2 polymorphisms with febrile seizures. Pediatr Res. 2003;54:53–57
  15. Chou IC, Lee CC, Huang CC, et al.  Association of the neuronal nicotinic acetylcholine receptor subunit α4 polymorphisms with febrile convulsions. Epilepsia. 2003;44:1088–1092
  16. Chou IC, Peng CT, Tsai FJ, Huang CC, Shi YR, Tsai CH. The lack of association between febrile convulsions and polymorphisms in SCNA1. Epilepsy Res. 2003;54:53–57
  17. Collins FS, Guyer MS, Chakravarti A. Variation on a theme (Cataloging human DNA sequence variation). Science. 1997;278:1580–1581
  18. Kwok PY, Gu Z. Single nucleotide polymorphism libraries (Why and how are we building them?). Mol Med Today. 1999;5:538–543
  19. EntrezSNP [database online]. Bethesda, MD: National Center for Biotechnology Information. Available at: http:// www.ncbi.nlm.nih.gov/SNP. Accessed February 5, 2004
  20. Whiting P, Schoepfer R, Lindstrom J, Priestley T. Structural and pharmacological characterization of the major brain nicotinic acetylcholine receptor subtype stably expressed in mouse fibroblasts. Mol Pharmacol. 1991;40:463–472
  21. Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Suggestion of a major gene for familial febrile convulsions mapping to 8q13–21. J Med Gene. 1996;33:308–312
  22. Johnson EW, Dubovsky J, Rich SS, et al.  Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet. 1998;7:63–67
  23. Nakayama J, Hamano K, Iwasaki N, et al.  Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet. 2000;9:87–91
  24. Nabbout R, Prud'homme JF, Herman A, et al.  A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain. 2002;125:2668–2680
  25. Wallace RH, Marini C, Petrou S, et al.  Mutant GABA[A] receptor gamma-2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001;28:49–52
  26. Escayg A, MacDonald BT, Meisler MH, et al.  Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 2000;24:343–345
  27. Wallace RH, Wang DW, Singh R, et al.  Febrile seizure and generalized epilepsy associated with a mutation in the Na+-channel beta 1 subunit gene SCN1B. Nat Genet. 1998;19:366–370
  28. Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al.  Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. 2002;58:1122–1124
  29. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Med Genet. 2001;68:1327–1332
  30. Baulac S, Picard F, Herman A, et al.  Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol. 2001;49:786–792

PII: S0887-8994(03)00436-3

doi: 10.1016/j.pediatrneurol.2003.08.001

Pediatric Neurology
Volume 30, Issue 3 , Pages 186-189 , March 2004

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