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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

SEZ6  -  seizure related 6 homolog (mouse)

Homo sapiens

Synonyms: SEZ-6, Seizure protein 6 homolog, hSEZ-6
 
 
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High impact information on SEZ6

  • Through amplification of genomic DNA by PCR and sequencing of the resulting products, we screened 75 subjects for mutations in the coding region (17 exons) of the SEZ-6 gene [1].
  • No mutations were found in healthy controls, but 21 of the patients with FS had mutations in SEZ-6, and the most common type of mutation was a heterozygous, cytosine insertion (frame shift mutation) at position 1435 of the cDNA [1].
  • Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains [2].
  • Specifically, the pattern of SEZ-6 expression is closely tied with the emergence of the neocortical layers and hippocampus, and implies a forebrain-specific role for this gene during development [2].
  • In vitro translation and immunoblot revealed that SEZ-6 protein is modified post-translationally and expressed in the cerebrum and the cerebellum [3].
 

Analytical, diagnostic and therapeutic context of SEZ6

References

  1. Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene. Yu, Z.L., Jiang, J.M., Wu, D.H., Xie, H.J., Jiang, J.J., Zhou, L., Peng, L., Bao, G.S. J. Neurosci. Res. (2007) [Pubmed]
  2. Localized expression of the seizure-related gene SEZ-6 in developing and adult forebrains. Kim, M.H., Gunnersen, J.M., Tan, S.S. Mech. Dev. (2002) [Pubmed]
  3. Cloning and characterization of seizure-related gene, SEZ-6. Shimizu-Nishikawa, K., Kajiwara, K., Sugaya, E. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
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