Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.

@article{Li2010NovelMO,
  title={Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.},
  author={Nan Li and Jie Zhang and Jifeng Guo and Xin-xiang Yan and Kun Xia and Bei-sha Tang},
  journal={Neuroscience letters},
  year={2010},
  volume={480 3},
  pages={211-4}
}
Generalized epilepsy with febrile seizures plus (GEFS+) is an epileptic syndrome inherited in autosomal dominant mode. Of all the identified causative GEFS+ genes, voltage-gated sodium channel alpha1 subunit gene (SCN1A) is the most clinically relevant one. We describe here the clinical and molecular characterization of a GEFS+ family. A novel heterozygous mutation c.5383G>A was revealed by direct sequencing of the SCN1A gene for both affected and unaffected individuals. It is speculated that… CONTINUE READING
Highly Cited
This paper has 54 citations. REVIEW CITATIONS
4 Citations
0 References
Similar Papers

Citations

Publications citing this paper.

54 Citations

0501001502015201620172018
Citations per Year
Semantic Scholar estimates that this publication has 54 citations based on the available data.

See our FAQ for additional information.

Similar Papers

Loading similar papers…