SCN8A mutation in a child presenting with seizures and developmental delays
نویسندگان
چکیده
منابع مشابه
SCN8A mutation in a child presenting with seizures and developmental delays
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 ...
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ژورنال
عنوان ژورنال: Molecular Case Studies
سال: 2016
ISSN: 2373-2865,2373-2873
DOI: 10.1101/mcs.a001073