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SCN8A mutation in a child presenting with seizures and developmental delays.

ABSTRACT: 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.

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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