Article

Pathogenic <i>SPTBN1</i> variants cause a novel autosomal dominant neurodevelopmental syndrome

2020-09-02

Abstract excerpt

SPTBN1 encodes βII-spectrin, the ubiquitously expressed member of the β-spectrin family that forms micrometer-scale networks associated with plasma membranes. βII-spectrin is abundantly expressed in the brain, where it is essential for neuronal development and connectivity. Mice deficient in neuronal βII-spectrin expression have defects in cortical organization, global developmental delay, dysmorphisms, and behavi...

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Literature Corpus work: fe467ca6-9af7-5abc-9b82-f5110b3c439a
DOI: 10.1101/2020.08.31.20184481

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