Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures

Danique Beijer; Stephan L Züchner

doi:10.3389/fnmol.2022.1011856

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures

Front Mol Neurosci. 2022 Sep 2:15:1011856. doi: 10.3389/fnmol.2022.1011856. eCollection 2022.

Authors

Danique Beijer¹, Stephan L Züchner¹

Affiliation

¹ Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, United States.

No abstract available

Keywords: genetic data analysis; monogenic disease; neurodevelopmental disorders; next generation sequencing (NGS); spectrin (α/β); spectrin cytoskeleton.

Publication types

Comment