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Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.
Spampanato J, Escayg A, Meisler MH, Goldin AL. Spampanato J, et al. Among authors: escayg a. J Neurosci. 2001 Oct 1;21(19):7481-90. doi: 10.1523/JNEUROSCI.21-19-07481.2001. J Neurosci. 2001. PMID: 11567038 Free PMC article.
Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+) have been identified previously in the SCN1A gene encoding the alpha subunit of the Na(v)1.1 voltage-gated sodium channel (Escayg et al., 2000). Both mutations change conserved residues in put …
Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+) have been identified previously in the SCN1A gene encoding …
Identification of epilepsy genes in human and mouse.
Meisler MH, Kearney J, Ottman R, Escayg A. Meisler MH, et al. Among authors: escayg a. Annu Rev Genet. 2001;35:567-88. doi: 10.1146/annurev.genet.35.102401.091142. Annu Rev Genet. 2001. PMID: 11700294 Free PMC article. Review.
85 results