Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

doi:10.15844/pedneurbriefs-26-7-4

Pediatric Neurology Briefs

Published 2012 | Version v1.0.0

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Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

Creators

Millichap, J. Gordon

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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Other: PNB-2012-26-7-4

Created: 2012

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Journal Article

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Pediatric Neurology Briefs Publishers

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English

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application/pdf

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1 page

Creative Commons Attribution 4.0 International

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Created: March 30, 2023
Modified: October 16, 2024

Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

Creators

Abstract

Files

PNB-2012-26-7-4.pdf

Files (111.3 kB)

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