Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Abstract
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise...
Paper Details
Title
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Published Date
Jul 1, 2021
Journal
Volume
53
Issue
7
Pages
1006 - 1021
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