Article
The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.
Epilepsy research - 1 Dec 2001
Haug K, Hallmann K, Rebstock J, Dullinger J, Muth S, Haverkamp F, Pfeiffer H, Rau B, Elger C E, Propping P, Heils A
Abstract excerpt
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...
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