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The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.

Citation

Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon. SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harbor molecular case studies. 2016 Nov;2(6):a001073

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PMID: 27900360

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