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. 2015 May 15;6:104. doi: 10.3389/fneur.2015.00104

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Copyright © 2015 Wagnon and Meisler.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Positions of missense mutations of SCN8A in epileptic encephalopathy. The four homologous domains of Na_v1.6 (DI to DIV) each contain six transmembrane segments (S1 to S6). The large inter-domain cytoplasmic loops 1 and 2 are evolutionarily less well-conserved than the transmembrane and linker domains. Loop 3 functions as the inactivation gate and is very highly conserved. Closed symbols, EIEE13 mutations in a single patient; open symbols, recurrent mutations.