Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

Investigators from Ljubljana, Slovenia report an 8-month-old female infant with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay.

Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2012-07-01
Series:Pediatric Neurology Briefs
Subjects:
Online Access:https://www.pediatricneurologybriefs.com/articles/526