1.
Cold Spring Harb Mol Case Stud
; 2(6): a001073, 2016 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27900360
RESUMO
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.