Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 2001 Aug 28;57(4):703-5.

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.

Author information

  • 1Laboratory for Neurogenetics, Brain Science Institute, RIKEN, Wako, Saitama, Japan.


Recent evidence has suggested that the neuronal voltage-gated sodium channel alpha(1)-subunit gene (Na(v)1.1: SCN1A) is responsible for generalized epilepsy with febrile seizures plus (GEFS+2). Here the authors report two novel disease mutations of Na(v)1.1 in patients with febrile seizures associated with afebrile partial seizures. One is a Val1428Ala substitution in the pore-forming region, and the other is Ala1685Val in the transmembrane helix. These results support the previous findings and contribute to the reliable diagnosis of epilepsy.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center