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Functional Effects of Two Voltage-Gated Sodium Channel Mutations That Cause Generalized Epilepsy with Febrile Seizures Plus Type 2

Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+) have been identified previously in theSCN1A gene encoding the α subunit of the Na(v)1.1 voltage-gated sodium channel (Escayg et al., 2000). Both mutations change conserved residues in putative voltage-sensing S4 segment...

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Bibliografiske detaljer
Udgivet i:J Neurosci
Main Authors: Spampanato, Jay, Escayg, Andrew, Meisler, Miriam H., Goldin, Alan L.
Format: Artigo
Sprog:Inglês
Udgivet: Society for Neuroscience 2001
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Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6762922/
https://ncbi.nlm.nih.gov/pubmed/11567038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.21-19-07481.2001
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