Na(upsilon)1.1 mutations cause febrile seizures associated with afebrile partial seizures

Recent evidence has suggested that the neuronal voltage-gated sodium channe l alpha (1)-subunit gene (Na(v)1.1: SCN1A) is responsible for generalized e pilepsy with febrile seizures plus (GEFS+2). Here the authors report two no vel disease mutations of Na(v)1.1 in patients with febrile seizures associa ted with afebrile partial seizures. One is a Val1428Ala substitution in the pore-forming region, and the other is Ala1685Val in the transmembrane heli x. These results support the previous findings and contribute to the reliab le diagnosis of epilepsy.