The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
Gene Review

BFIS1  -  benign familial infantile convulsions

Homo sapiens

Synonyms: BFIC, BFIC1
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of BFIC

 

High impact information on BFIC

 

Biological context of BFIC

  • The two-point lod score analysis showed no evidence of BFIC phenotype on chromosome 19 [8].
  • It was rare, as not observed in controls, but not segregating with the BFIC phenotype [7].
  • We studied SCN1B exons 1, 2, 3, 4, and 5, using four SSCP methods in 10 Caucasian BFIC probands of Western Europe. We found no exon variants [7].
  • In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136 [2].
  • METHODS: Five polymorphic microsatellite markers covering the BFIC locus on chromosome 19q have been typed, and parametric linkage analysis has been performed to analyze the segregation of the BFIC locus within our families [9].
 

Anatomical context of BFIC

 

Associations of BFIC with chemical compounds

 

Other interactions of BFIC

 

Analytical, diagnostic and therapeutic context of BFIC

References

  1. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Caraballo, R., Pavek, S., Lemainque, A., Gastaldi, M., Echenne, B., Motte, J., Genton, P., Cersósimo, R., Humbertclaude, V., Fejerman, N., Monaco, A.P., Lathrop, M.G., Rochette, J., Szepetowski, P. Am. J. Hum. Genet. (2001) [Pubmed]
  2. Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families. Weber, Y.G., Berger, A., Bebek, N., Maier, S., Karafyllakes, S., Meyer, N., Fukuyama, Y., Halbach, A., Hikel, C., Kurlemann, G., Neubauer, B., Osawa, M., Püst, B., Rating, D., Saito, K., Stephani, U., Tauer, U., Lehmann-Horn, F., Jurkat-Rott, K., Lerche, H. Epilepsia (2004) [Pubmed]
  3. Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. Gu, W., Sander, T., Becker, T., Steinlein, O.K. Neurogenetics (2004) [Pubmed]
  4. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Vanmolkot, K.R., Kors, E.E., Hottenga, J.J., Terwindt, G.M., Haan, J., Hoefnagels, W.A., Black, D.F., Sandkuijl, L.A., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M. Ann. Neurol. (2003) [Pubmed]
  5. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Malacarne, M., Gennaro, E., Madia, F., Pozzi, S., Vacca, D., Barone, B., dalla Bernardina, B., Bianchi, A., Bonanni, P., De Marco, P., Gambardella, A., Giordano, L., Lispi, M.L., Romeo, A., Santorum, E., Vanadia, F., Vecchi, M., Veggiotti, P., Vigevano, F., Viri, F., Bricarelli, F.D., Zara, F. Am. J. Hum. Genet. (2001) [Pubmed]
  6. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Guipponi, M., Rivier, F., Vigevano, F., Beck, C., Crespel, A., Echenne, B., Lucchini, P., Sebastianelli, R., Baldy-Moulinier, M., Malafosse, A. Hum. Mol. Genet. (1997) [Pubmed]
  7. Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC). Moulard, B., Buresi, C., Malafosse, A. Hum. Mutat. (2000) [Pubmed]
  8. Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC). Rauschemberger, M.B., Vecchi, C., Barrantes, F.J. Neurochem. Res. (2002) [Pubmed]
  9. No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1. Gennaro, E., Malacarne, M., Carbone, I., Riggio, M.C., Bianchi, A., Bonanni, P., Boniver, C., Dalla Bernardina, B., De Marco, P., Giordano, L., Guerrini, R., Santorum, E., Sebastianelli, R., Vecchi, M., Veggiotti, P., Vigevano, F., Bricarelli, F.D., Zara, F. Epilepsia (1999) [Pubmed]
  10. New insights into the clinical management of partial epilepsies. Hirsch, E., de Saint-Martin, A., Arzimanoglou, A. Epilepsia (2000) [Pubmed]
  11. No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures. Martinelli Boneschi, F., Aridon, P., Zara, F., Guerrini, R., Marini, C., De Fusco, M., Comi, G., Casari, G. Neurosci. Lett. (2005) [Pubmed]
  12. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Kato, N., Sadamatsu, M., Kikuchi, T., Niikawa, N., Fukuyama, Y. Epilepsy Res. (2006) [Pubmed]
  13. Ictal and interictal single photon emission computed tomography in a patient with benign familial infantile convulsions. Nagase, T., Takahashi, Y., Iida, S., Masue, M., Okamoto, H., Kondo, N. Journal of neuroimaging : official journal of the American Society of Neuroimaging. (2002) [Pubmed]
 
WikiGenes - Universities