%0 Case Reports
%T SCN8A mutation in a child presenting with seizures and developmental delays.
%A Malcolmson J
%A Kleyner R
%A Tegay D
%A Adams W
%A Ward K
%A Coppinger J
%A Nelson L
%A Meisler MH
%A Wang K
%A Robison R
%A Lyon GJ
%J Cold Spring Harb Mol Case Stud
%V 2
%N 6
%D 11 2016
%M 27900360
暂无%R 10.1101/mcs.a001073
%X 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.