Pediatric Neurology Briefs (Jul 2012)

Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

  • J Gordon Millichap

DOI
https://doi.org/10.15844/pedneurbriefs-26-7-4
Journal volume & issue
Vol. 26, no. 7
pp. 52 – 52

Abstract

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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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