IndraLab

Statements

SCN8A activates sodium atom. 3 / 3
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"SCN8A encephalopathy is a newly defined EE caused by de novo mutations of the gene SCN8A encoding the sodium channel Na v 1.6 (OMIM # 614558)."
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"Heterozygous D/+ mice were crossed with +/- mice carrying the null allele Scn8a medtg that does not produce Na v 1.6 protein due to an intragenic insertion."
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"Taken together, we hypothesize that mutations in the 5N exon of SCN8A could cause disease by altering the inactivation kinetics of the Na v 1.6 channels expressed in early development, leading to hyperexcitability in neurons expressing those channels."
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