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Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.

Abstract
The LGI4 gene is located in a region linked to benign familial infantile convulsions (BFIC) and idiopathic generalized epilepsy. Screening of the LGI4 coding region in BFIC and childhood absence epilepsy (CAE) revealed several frequent exonic polymorphisms. A genotypic association was found for the c.1914GC --> AT polymorphism in 42 CAE patients compared with 110 population controls (chi2 = 6.66, df = 1, P = 0.01), providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region.
AuthorsWenli Gu, Thomas Sander, Tim Becker, Ortrud K Steinlein
JournalNeurogenetics (Neurogenetics) Vol. 5 Issue 1 Pg. 41-4 (Feb 2004) ISSN: 1364-6745 [Print] United States
PMID14505228 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • LGI3 protein, human
  • Nerve Tissue Proteins
  • Proteins
Topics
  • DNA Mutational Analysis
  • Epilepsy, Absence (genetics)
  • Exons (genetics)
  • Gene Frequency
  • Genetic Variation
  • Genotype
  • Humans
  • Infant
  • Multigene Family (genetics)
  • Nerve Tissue Proteins
  • Polymorphism, Genetic
  • Proteins (genetics)

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