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

ICCA  -  infantile convulsions and paroxysmal...

Homo sapiens

This record was replaced with 112476.
 
 
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 ICCA

  • BFIC appears to be frequently associated with paroxysmal dyskinesias, because many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 ICCA region [1].
  • Some patients in the new family also exhibit recurrence of epileptic seizures at a much later age, making the ICCA syndrome in this family atypical [2].
  • Clinical analogies and linkage findings suggest that the same gene could be responsible for rolandic epilepsy, PED, writer's cramp (WC), and ICCA, with specific mutations accounting for each of these mendelian disorders [3].
 

High impact information on ICCA

  • BFIC had been linked to chromosome 19q, whereas the infantile convulsions and choreoathetosis (ICCA) syndrome, in which BFIC is associated with paroxysmal dyskinesias, had been linked to chromosome 16p12-q12 [1].
  • The unusual phenotype displayed by one homozygous patient suggests that variability of the ICCA syndrome could be sustained by genetic modifiers [1].
  • Although chromosome 19q could be excluded, evidence for linkage in the ICCA region was found, with a maximum two-point LOD score of 3.32 for markers D16S3131 and SPN [1].
  • These results exclude one locus on chromosome 16 which causes both the ICCA and PKC syndromes; this suggests that there may be a cluster of genes on human chromosome 16 which lead to paroxysmal disorders [4].
  • Evidence for a major gene or a cluster of genes for epilepsy and paroxysmal dyskinesia to the pericentromeric region of chromosome 16 is reinforced by the recent linkage of a family with autosomal dominant paroxysmal dyskinesia to a critical region partially overlapping with ICCA and contiguous to the RE-PED-WC regions [3].
 

Biological context of ICCA

 

Other interactions of ICCA

  • CONCLUSIONS: This family presented with the classic phenotype of PED and is not linked to the PNKD, FHM, or ICCA loci [5].
 

Analytical, diagnostic and therapeutic context of ICCA

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. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. Lee, W.L., Tay, A., Ong, H.T., Goh, L.M., Monaco, A.P., Szepetowski, P. Hum. Genet. (1998) [Pubmed]
  3. Idiopathic epilepsy and paroxysmal dyskinesia. Guerrini, R. Epilepsia (2001) [Pubmed]
  4. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Valente, E.M., Spacey, S.D., Wali, G.M., Bhatia, K.P., Dixon, P.H., Wood, N.W., Davis, M.B. Brain (2000) [Pubmed]
  5. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. Münchau, A., Valente, E.M., Shahidi, G.A., Eunson, L.H., Hanna, M.G., Quinn, N.P., Schapira, A.H., Wood, N.W., Bhatia, K.P. J. Neurol. Neurosurg. Psychiatr. (2000) [Pubmed]
  6. Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events. Thiriaux, A., de St Martin, A., Vercueil, L., Battaglia, F., Armspach, J.P., Hirsch, E., Marescaux, C., Namer, I.J. Mov. Disord. (2002) [Pubmed]
 
WikiGenes - Universities