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Published 2012 | Version v1.0.0
Journal Article Open

Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

Abstract

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.

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Created:
March 30, 2023
Modified:
March 30, 2023