SCN8A mutation in a child presenting with seizures and developmental delays.
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ABSTRACT:
SUBMITTER: Malcolmson J
PROVIDER: S-EPMC5111007 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
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<i>SCN8A</i> mutation in a child presenting with seizures and developmental delays.
Malcolmson Janet J Kleyner Robert R Tegay David D Adams Whit W Ward Kenneth K Coppinger Justine J Nelson Lesa L Meisler Miriam H MH Wang Kai K Robison Reid R Lyon Gholson J GJ
Cold Spring Harbor molecular case studies 20161101 6
The <i>SCN8A</i> 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 <i>SCN8A</i> 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. ...[more]
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