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SCN2B  -  sodium channel, voltage-gated, type II,...

Homo sapiens

 
 
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Disease relevance of SCN2B

 

High impact information on SCN2B

  • Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome [2].
  • Exclusion of the SCN2B gene as candidate for CMT4B [3].
  • In this paper, we report the genomic structure of the SCN2B gene consisting of 4 exons and 3 introns spanning a region of approximately 12 Kb [3].
  • A cDNA encoding for the beta 2 subunit of the human brain sodium channel, SCN2B, has been recently assigned to the same chromosomal interval by FISH [3].

References

  1. The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy. Haug, K., Sander, T., Hallmann, K., Rau, B., Dullinger, J.S., Elger, C.E., Propping, P., Heils, A. Neuroreport (2000) [Pubmed]
  2. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Wallace, R.H., Scheffer, I.E., Parasivam, G., Barnett, S., Wallace, G.B., Sutherland, G.R., Berkovic, S.F., Mulley, J.C. Neurology (2002) [Pubmed]
  3. Exclusion of the SCN2B gene as candidate for CMT4B. Bolino, A., Seri, M., Caroli, F., Eubanks, J., Srinivasan, J., Mandich, P., Schenone, A., Quattrone, A., Romeo, G., Catterall, W.A., Devoto, M. Eur. J. Hum. Genet. (1998) [Pubmed]
 
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