These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.
    Author: Haug K, Hallmann K, Rebstock J, Dullinger J, Muth S, Haverkamp F, Pfeiffer H, Rau B, Elger CE, Propping P, Heils A.
    Journal: Epilepsy Res; 2001 Dec; 47(3):243-6. PubMed ID: 11738931.
    Abstract:
    We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE.
    [Abstract] [Full Text] [Related] [New Search]